Condition: Neoplastic Syndromes, Hereditary


rs587780059 in AIMP2;PMS2 gene and Neoplastic Syndromes, Hereditary PMID 27476653 2016 Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 28466842 2017 Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

rs104886457 in AOPEP;FANCC gene and Neoplastic Syndromes, Hereditary PMID 28425259 2017 Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.

PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C gene.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

PMID 8882868 1996 Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.

rs1019221239 in APC gene and Neoplastic Syndromes, Hereditary PMID 9101302 1997 Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.

PMID 20685668 2010 Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

PMID 15459959 2004 Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

PMID 18433509 2008 Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

PMID 23159591 2013 APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

PMID 20223039 2005 Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

PMID 18199528 2008 Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

PMID 21078199 2010 Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.

PMID 19036155 2008 Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

PMID 25590978 2015 Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

PMID 21859464 2011 Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?

PMID 19196998 2009 Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

PMID 24599579 2014 The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.

PMID 17411426 2007 Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

PMID 8544194 1995 Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

PMID 10083733 1999 Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.

PMID 8252630 1993 Alleles of the APC gene: an attenuated form of familial polyposis.

PMID 11960572 2001 Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 9375853 1997 APC mutations in familial adenomatous polyposis families in the Northwest of England.

PMID 8990002 1997 Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.

PMID 8187091 1994 Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.

PMID 8162022 1994 Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

PMID 8730280 1996 Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.

PMID 19029688 2008 APC gene mutations causing familial adenomatous polyposis in Polish patients.

PMID 10768871 2000 The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.

PMID 20649969 2010 Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.

PMID 26446593 2016 Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

PMID 11247896 2001 Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

PMID 16088911 2005 Mutation spectrum of the APC gene in 83 Korean FAP families.

PMID 12007223 2002 Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.

PMID 7833936 1994 Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.

PMID 1316610 1992 Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

PMID 19336753 2009 The role of pediatricians in families with a history of familial adenomatous polyposis.

PMID 22987206 2013 Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

PMID 11933206 2002 APC germline mutations identified in Czech patients with familial adenomatous polyposis.

PMID 17135276 2007 APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.

PMID 19444466 2009 APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

PMID 18166348 2008 Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.

PMID 23185543 2012 Structure of the human discs large 1 PDZ2- adenomatous polyposis coli cytoskeletal polarity complex: insight into peptide engagement and PDZ clustering.

PMID 21858148 2011 Molecular basis for the recognition of adenomatous polyposis coli by the Discs Large 1 protein.

PMID 11707392 2001 Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin complex.

PMID 18387968 2008 Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours.

PMID 15024739 2004 Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

PMID 20924072 2011 Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

PMID 21653199 2011 Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test.

PMID 28533537 2017 Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

PMID 9950360 1999 Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.

PMID 14961559 2003 The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

PMID 26422110 2015 Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis.

PMID 24664542 2014 Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.

PMID 23906606 2013 Identification of APC gene mutations in jejunal carcinomas from a patient with familial adenomatous polyposis.

PMID 1338764 1992 Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.

PMID 23561487 2013 Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

PMID 21110124 2011 Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.

PMID 8103406 1993 The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region.

PMID 26625971 2016 Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

PMID 25832318 2015 Familial adenomatous polyposis-associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features.

PMID 10646887 2000 APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis.

PMID 12581900 2003 Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients.

PMID 10982189 2000 Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

PMID 16317745 2006 Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

PMID 15857185 2005 APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.

PMID 16134147 2005 Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

PMID 1651563 1991 Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

PMID 10094547 1999 Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation.

PMID 1324223 1992 Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

PMID 19793053 2009 APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

PMID 12357334 2002 De novo mutations in familial adenomatous polyposis (FAP).

PMID 21779980 2011 A survey of APC mutations in Quebec.

PMID 26613750 2016 Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

PMID 27574554 2016 Immunohistochemical analysis of the Wnt/β-catenin signaling pathway in pancreatic neuroendocrine neoplasms.

PMID 26300997 2015 Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

PMID 8381580 1993 Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.

PMID 10811618 2000 Structural basis of the Axin-adenomatous polyposis coli interaction.

PMID 20434453 2010 Allele-specific expression of APC in adenomatous polyposis families.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 7833149 1994 Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene.

PMID 7853377 1994 APC mutation associated with late onset of familial adenomatous polyposis.

PMID 19768578 2010 Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

PMID 20333795 2010 APC gene mutations in Chinese familial adenomatous polyposis patients.

PMID 19828935 2009 Single cell analysis of mutations in the APC gene.

PMID 10077047 1999 Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli.

PMID 11768389 2001 A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.

PMID 8381579 1993 Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

PMID 9824584 1998 Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.

PMID 27081525 2015 Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.

PMID 22135120 2011 Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?

PMID 28135145 2017 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

PMID 9973276 1999 Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.

PMID 9288102 1997 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 16228836 2005 Colorectal polyps in carriers of the APC I1307K polymorphism.

PMID 28125075 2017 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

PMID 10938175 2000 Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps.

PMID 27146957 2016 Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

PMID 26314409 2016 Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.

PMID 23576677 2013 APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 18343606 2009 No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer.

PMID 23896379 2013 The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.

PMID 26421687 2016 The APC I1307K allele conveys a significant increased risk for cancer.

PMID 11159880 2001 APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.

PMID 17486639 2007 Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

PMID 15108286 2004 Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).

PMID 9521420 1998 Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations.

PMID 10598803 1999 The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.

PMID 24735542 2014 A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing.

PMID 8118461 1994 Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

PMID 17963004 2007 Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

PMID 8395941 1993 Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

PMID 26840078 2016 Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.

PMID 15771908 2005 Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.

PMID 12010888 2002 Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 19531215 2009 Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

PMID 22150579 2012 Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.

PMID 18063416 2008 American founder mutation for attenuated familial adenomatous polyposis.

PMID 22809634 2013 Inflammatory bowel disease and familial adenomatous polyposis.

PMID 19331226 2009 Initial results of colorectal polyposis research in Latvia.

PMID 24750145 2014 Duodenal adenomatosis in Japanese patients with familial adenomatous polyposis.

PMID 12173026 2002 Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).

PMID 21142386 2010 Andalusian Registry for familial adenomatous polyposis. Analysis of patients included.

PMID 9585611 1998 Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 18629394 2008 Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation?

PMID 22658618 2012 ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

PMID 12901799 2003 A nonsense mutation in exon 8 of the APC gene (Arg283Ter) causes clinically variable FAP in a Malaysian Chinese family.

PMID 25123297 2015 Tumor genome analysis includes germline genome: are we ready for surprises?

PMID 10440612 1999 Germline and somatic mutations in exon 15 of the APC gene and K-ras mutations in duodenal adenomas in patients with familial adenomatous polyposis.

PMID 14729851 2004 Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis.

PMID 12702169 2003 Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography.

PMID 23715166 2013 Multifocal hepatic neoplasia in 3 children with APC gene mutation.

PMID 23575299 2014 Fatal extraintestinal adrenal malignancy in a 12-year-old girl with familial adenomatous polyposis.

PMID 28185118 2017 Gastric cancer in FAP: a concerning rise in incidence.

PMID 17489848 2007 Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

PMID 20682701 2010 The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

PMID 24518971 2014 A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer.

PMID 10090483 1999 Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online.

PMID 11001924 2000 Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

PMID 8968744 1996 Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

PMID 23244118 2012 Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis.

PMID 11839722 2002 Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation.

PMID 17604324 2008 Somatic APC mosaicism: an underestimated cause of polyposis coli.

PMID 9341879 1997 Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.

PMID 23460355 2013 Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.

PMID 15951963 2005 A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.

PMID 27158207 2016 Clinicopathological features of familial adenomatous polyposis in Korean patients.

PMID 17230660 2006 Gene symbol: APC. Disease: adenomatous polyposis coli.

PMID 16883523 2006 [A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].

PMID 10656683 2000 The APC-hDLG complex negatively regulates cell cycle progression from the G0/G1 to S phase.

PMID 10951583 2000 The Adenomatous Polyposis Coli-protein (APC) interacts with the protein tyrosine phosphatase PTP-BL via an alternatively spliced PDZ domain.

PMID 25208568 2014 Self-association of the APC tumor suppressor is required for the assembly, stability, and activity of the Wnt signaling destruction complex.

PMID 8844222 1996 Four novel germline mutations of the APC gene.

PMID 20033787 2010 A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype.

PMID 22941256 2012 Ovarian metastases of colorectal and duodenal cancer in familial adenomatous polyposis.

PMID 27000756 2016 Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

PMID 15300853 2004 Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

PMID 15833136 2005 Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

rs1057516541 in ATM gene and Neoplastic Syndromes, Hereditary PMID 21778326 2011 Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.

PMID 27039262 2016 Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.

PMID 14695534 2004 Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.

PMID 10330348 1999 Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

PMID 9887333 1999 Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

PMID 10980530 2000 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

PMID 22006793 2012 Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

PMID 24506781 2014 Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

PMID 20346647 2010 Discovering moderate-risk breast cancer susceptibility genes.

PMID 18497957 2008 Contribution of mutations in ATM to breast cancer development in the Czech population.

PMID 9682216 1998 A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

PMID 25793145 2015 Myoclonus in ataxia-telangiectasia.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

PMID 9463314 1998 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 25614872 2014 Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

PMID 11889466 2002 A new type of mutation causes a splicing defect in ATM.

PMID 27671921 2016 Ataxia telangiectasia associated with nodular regenerative hyperplasia.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 27553368 2016 Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

PMID 10425038 1999 New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

PMID 12552559 2003 Comprehensive scanning of the ATM gene with DOVAM-S.

PMID 16411093 2006 Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.

PMID 24568663 2015 Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

PMID 23454770 2013 p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

PMID 22520355 2012 Ataxia-telangiectasia presenting with a novel immunodeficiency.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 19770270 2009 Nonaminoglycoside compounds induce readthrough of nonsense mutations.

PMID 9450906 1998 Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.

PMID 27980538 2016 Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

PMID 22649200 2012 Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 21787400 2011 Rare variants in the ATM gene and risk of breast cancer.

PMID 19781682 2009 Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

PMID 8968760 1996 Ataxia-telangiectasia: founder effect among north African Jews.

PMID 23322442 2013 Molecular defects in Moroccan patients with ataxia-telangiectasia.

PMID 15101044 2004 Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

PMID 12497634 2003 ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.

PMID 9443866 1998 Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

PMID 17540590 2007 Alpha fetoprotein is increasing with age in ataxia-telangiectasia.

PMID 10817650 2000 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

PMID 9497252 1998 Genotype-phenotype relationships in ataxia-telangiectasia and variants.

PMID 21965147 2011 New mutations in the ATM gene and clinical data of 25 AT patients.

PMID 27599564 2016 Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

PMID 16941484 2006 ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

PMID 22213089 2012 Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

PMID 22071889 2012 Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

PMID 17910737 2008 Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

PMID 19691550 2009 Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

PMID 24789685 2014 Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

PMID 25037873 2014 Cognitive phenotype in ataxia-telangiectasia.

PMID 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 15164409 2004 Identification of two mutations for ataxia telangiectasia among the Druze community.

PMID 23612382 2013 Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 8789452 1996 Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

PMID 26506520 2015 Prevalence of deleterious ATM germline mutations in gastric cancer patients.

PMID 26182300 2015 Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 16266405 2005 ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

PMID 27276934 2017 The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.

PMID 22585167 2012 ATM mutations in patients with hereditary pancreatic cancer.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 24512911 2014 Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas.

PMID 21993670 2012 ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.

PMID 15843990 2005 ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

PMID 8755918 1996 Mutations associated with variant phenotypes in ataxia-telangiectasia.

PMID 28652578 2017 Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

PMID 27484032 2016 Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

PMID 25077176 2014 A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

PMID 21445571 2011 Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

PMID 19431188 2009 Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

PMID 21933854 2012 ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

PMID 22529920 2012 Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

PMID 21792198 2011 Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

PMID 18502988 2008 ATM gene variants in patients with idiopathic perifoveal telangiectasia.

PMID 17985259 2007 Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study.

PMID 10873394 2000 Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

PMID 23091097 2012 Biallelic ATM inactivation significantly reduces survival in patients treated on the United Kingdom Leukemia Research Fund Chronic Lymphocytic Leukemia 4 trial.

PMID 10234507 1999 Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

PMID 29486991 2018 Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.

PMID 11298136 2001 Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.

PMID 12673797 2003 Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

PMID 11857346 2002 TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia.

PMID 23143971 2013 Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.

PMID 18321536 2008 Rapid screen for truncating ATM mutations by PTT-ELISA.

PMID 11821961 2002 Breakpoints in the ataxia telangiectasia gene arise at the RGYW somatic hypermutation motif.

PMID 2491181 1989 ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

PMID 15039971 2004 Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

PMID 16832357 2006 ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

PMID 23566627 2013 Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.

PMID 10677309 2000 ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

PMID 24090759 2013 Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

PMID 28956312 2017 Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017).

PMID 19535770 2009 Clinical spectrum of ataxia-telangiectasia in adulthood.

PMID 23360865 2013 Dermatologic manifestations of ataxia-telangiectasia syndrome.

PMID 20717907 2010 The feasibility and validity of forced spirometry in ataxia telangiectasia.

PMID 15196260 2004 The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.

PMID 9711876 1998 ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

PMID 24422204 2014 Ataxia-telangiectasia with novel splicing mutations in the ATM gene.

PMID 22146522 2012 Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

PMID 26439923 2015 Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

PMID 24405665 2014 Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.

PMID 24935205 2015 Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous ATM mutation.

PMID 18431795 2008 A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 21164480 2010 TRIM24 links a non-canonical histone signature to breast cancer.

PMID 12072877 2002 Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

PMID 21833744 2011 Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

PMID 11756177 2002 ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.

PMID 25040471 2015 Ataxia telangiectasia: more variation at clinical and cellular levels.

PMID 18634022 2009 Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

PMID 23264026 2013 Newborn screening for SCID identifies patients with ataxia telangiectasia.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 19705055 2009 Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.

PMID 9043869 1996 Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

PMID 9872980 1998 Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

PMID 19404735 2010 ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

PMID 23561644 2013 Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

PMID 20840352 2011 Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.

PMID 15880721 2005 ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

PMID 22763152 2013 Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task.

PMID 19022408 2009 Human MutL-complexes monitor homologous recombination independently of mismatch repair.

PMID 25374739 2013 A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome.

PMID 20308662 2010 Child with ataxia telangiectasia developing acute myeloid leukemia.

PMID 23807571 2013 Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

PMID 26757417 2016 Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

PMID 27528516 2016 Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

PMID 9792409 1998 ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

PMID 22927201 2012 A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

PMID 20678261 2010 Low levels of ATM in breast cancer patients with clinical radiosensitivity.

PMID 27989354 2017 Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.

PMID 25625042 2015 ATM gene mutations in sporadic breast cancer patients from Brazil.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 15054841 2004 Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.

PMID 17376192 2007 Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

PMID 20153123 2010 DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 17393301 2008 The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

PMID 15390180 2005 Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.

PMID 8808599 1996 A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

PMID 25883141 2015 JPred4: a protein secondary structure prediction server.

PMID 12553904 2003 The ATRs, ATMs, and TORs are giant HEAT repeat proteins.

rs1057516282 in ATM;C11orf65 gene and Neoplastic Syndromes, Hereditary PMID 25480502 2015 Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.

PMID 16603769 2006 The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM.

PMID 12552559 2003 Comprehensive scanning of the ATM gene with DOVAM-S.

PMID 10817650 2000 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

PMID 8755918 1996 Mutations associated with variant phenotypes in ataxia-telangiectasia.

PMID 26628246 2016 Novel ATM mutations with ataxia-telangiectasia.

PMID 19431188 2009 Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 10980530 2000 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

PMID 21787400 2011 Rare variants in the ATM gene and risk of breast cancer.

PMID 23322442 2013 Molecular defects in Moroccan patients with ataxia-telangiectasia.

PMID 23946315 2013 Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

PMID 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 17910737 2008 Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

PMID 8808599 1996 A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

PMID 9463314 1998 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 10330348 1999 Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 22585167 2012 ATM mutations in patients with hereditary pancreatic cancer.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 8659541 1996 Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 21933854 2012 ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

PMID 18634022 2009 Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

PMID 9443866 1998 Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

PMID 29101607 2018 Development of a high risk pancreatic screening clinic using 3.0 T MRI.

PMID 10425038 1999 New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

PMID 15880721 2005 ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

PMID 25614872 2014 Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

PMID 16266405 2005 ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

PMID 21833744 2011 Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 9887333 1999 Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

PMID 15039971 2004 Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

PMID 10873394 2000 Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

PMID 25040471 2015 Ataxia telangiectasia: more variation at clinical and cellular levels.

PMID 28195393 2017 Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

PMID 26022348 2015 HBOC multi-gene panel testing: comparison of two sequencing centers.

PMID 9792409 1998 ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

PMID 26693373 2015 Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

PMID 19781682 2009 Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 23585368 2013 Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 20346647 2010 Discovering moderate-risk breast cancer susceptibility genes.

PMID 9054948 1997 Heterozygous ATM mutations do not contribute to early onset of breast cancer.

PMID 19691550 2009 Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

PMID 16941484 2006 ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

PMID 18321536 2008 Rapid screen for truncating ATM mutations by PTT-ELISA.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 10397742 1999 Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.

PMID 11756177 2002 ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.

PMID 19404735 2010 ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

PMID 17968022 2007 Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion.

PMID 12149228 2002 ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma.

PMID 22529920 2012 Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

PMID 23585524 2013 ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.

PMID 12697903 2003 Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

PMID 25122203 2014 The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 21792198 2011 Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

PMID 25957637 2015 Clinical variability in ataxia-telangiectasia.

PMID 21965147 2011 New mutations in the ATM gene and clinical data of 25 AT patients.

PMID 22146522 2012 Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

PMID 11805335 2002 Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

PMID 25572163 2015 Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

PMID 21354641 2011 Ataxia telangiectasia: the consequences of a delayed diagnosis.

PMID 19535770 2009 Clinical spectrum of ataxia-telangiectasia in adulthood.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 17923702 2007 DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity.

PMID 21445571 2011 Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

PMID 16832357 2006 ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

PMID 22071889 2012 Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

PMID 21665257 2011 Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

PMID 11897822 2002 ATM mutations in Finnish breast cancer patients.

PMID 16622469 2006 ATM haplotypes and breast cancer risk in Jewish high-risk women.

PMID 16914028 2006 ATM variants and cancer risk in breast cancer patients from Southern Finland.

PMID 17166884 2007 Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 9043869 1996 Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

PMID 9682216 1998 A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

PMID 11382771 2001 Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

PMID 15174027 2004 Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 18560558 2008 Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.

PMID 26220245 2016 Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.

PMID 9244351 1997 Recombinant ATM protein complements the cellular A-T phenotype.

PMID 18066086 2007 Activation and regulation of ATM kinase activity in response to DNA double-strand breaks.

PMID 26491069 2015 Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis.

PMID 23454770 2013 p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

PMID 22213089 2012 Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

PMID 12655570 2003 Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 22006793 2012 Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

rs1553645164 in BAP1 gene and Neoplastic Syndromes, Hereditary PMID 22545102 2012 Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families.

PMID 27181379 2016 CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

PMID 28900502 2017 A BAP1 Mutation-specific MicroRNA Signature Predicts Clinical Outcomes in Clear Cell Renal Cell Carcinoma Patients with Wild-type BAP1.

PMID 25501392 2015 Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes.

PMID 26683624 2015 Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.

PMID 21874000 2011 Germline BAP1 mutations predispose to malignant mesothelioma.

PMID 26096145 2016 Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.

PMID 26719535 2016 Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.

PMID 25687217 2015 Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

PMID 28793149 2017 Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.

rs1057517589 in BARD1 gene and Neoplastic Syndromes, Hereditary PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 18480049 2008 Crystal structure of the BARD1 ankyrin repeat domain and its functional consequences.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 21344236 2012 Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 25994375 2015 Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 26010302 2016 Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 20077502 2010 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 28174632 2017 BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 28709830 2017 Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

PMID 17550235 2007 Crystal structure of the BARD1 BRCT domains.

PMID 18842000 2008 The BARD1 C-terminal domain structure and interactions with polyadenylation factor CstF-50.

PMID 15782130 2005 BARD1 induces apoptosis by catalysing phosphorylation of p53 by DNA-damage response kinase.

PMID 14578343 2003 Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains.

PMID 27083178 2016 Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

rs113993962 in BLM gene and Neoplastic Syndromes, Hereditary PMID 24096176 2013 A common nonsense mutation of the BLM gene and prostate cancer risk and survival.

PMID 21815139 2012 High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.

PMID 9482582 1998 A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.

PMID 7585968 1995 The Bloom's syndrome gene product is homologous to RecQ helicases.

PMID 12702560 2003 Heterozygosity for the BLM(Ash) mutation and cancer risk.

PMID 9837821 1998 The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

PMID 17407155 2007 Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

PMID 12242432 2002 BLM heterozygosity and the risk of colorectal cancer.

PMID 23225144 2013 Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

PMID 10090915 1999 Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews.

PMID 15726604 2005 Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development.

PMID 24733792 2014 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

PMID 26358404 2015 Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 25410042 2014 The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.

PMID 25399228 2014 The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25182961 2015 Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

PMID 23552953 2013 Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.

PMID 11399766 2001 Functional interaction of p53 and BLM DNA helicase in apoptosis.

PMID 10069810 1999 The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.

PMID 27533158 2016 Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.

PMID 23928670 2013 Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

PMID 26247052 2015 A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.

rs1057517610 in BMPR1A gene and Neoplastic Syndromes, Hereditary PMID 15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

PMID 23433720 2013 BMPR1A mutations in juvenile polyposis affect cellular localization.

PMID 18823382 2009 The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

PMID 14734220 2004 Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concerns.

PMID 18262054 2008 A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

PMID 15064755 2004 Molecular recognition of BMP-2 and BMP receptor IA.

PMID 12417513 2002 Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

PMID 11381269 2001 Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

PMID 12136244 2002 Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 11536076 2001 Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

PMID 10881198 2000 Crystal structure of the BMP-2-BRIA ectodomain complex.

PMID 9371495 1997 Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

PMID 22799562 2012 Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.

PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

PMID 18178612 2008 Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.

PMID 16436638 2006 Mutation screening in juvenile polyposis syndrome.

rs1060505048 in BRCA1 gene and Neoplastic Syndromes, Hereditary PMID 22798144 2012 Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

PMID 20858050 2010 A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

PMID 19016756 2008 Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.

PMID 25066507 2014 Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania.

PMID 22753153 2012 Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.

PMID 26187060 2016 Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

PMID 10359546 1999 Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

PMID 27376475 2016 Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

PMID 26577449 2015 BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.

PMID 29339979 2018 BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

PMID 27495310 2017 Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.

PMID 28781887 2016 Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

PMID 23536787 2013 Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

PMID 20522429 2010 The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

PMID 21447777 2011 A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

PMID 22505045 2012 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

PMID 17020472 2006 The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.

PMID 19452558 2009 Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets.

PMID 21673748 2011 Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

PMID 12955716 2003 Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

PMID 15133502 2004 Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

PMID 14517958 2003 Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.

PMID 22970155 2012 Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

PMID 27257965 2016 Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

PMID 26541979 2016 Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.

PMID 9836072 1998 A new BRCA1 mutation in a Filipino woman with a family history of breast and ovarian cancer.

PMID 12815598 2003 A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.

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PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

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PMID 10398427 1999 CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas.

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PMID 12700603 2003 A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.

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PMID 21893440 2011 Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

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PMID 12072543 2002 Geographical variation in the penetrance of CDKN2A mutations for melanoma.

PMID 16214921 2005 Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.

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PMID 9751050 1998 Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumour suppressor p16INK4a.

PMID 17255954 2007 Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma.

PMID 19690981 2010 Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.

PMID 8755727 1996 Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroism.

PMID 9856841 1998 CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds.

PMID 15140233 2004 p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma.

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PMID 28592523 2017 Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.

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PMID 9916806 1999 Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.

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PMID 19484507 2009 Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes.

PMID 19260062 2009 Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

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PMID 10070944 1999 CDKN2A variants in a population-based sample of Queensland families with melanoma.

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PMID 7670475 1995 Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds.

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PMID 26876133 2016 CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature.

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PMID 11319798 2001 Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families.

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PMID 11156381 2000 CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas.

PMID 10861313 2000 Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.

PMID 21150883 2011 Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

PMID 12454511 2002 CDKN2A germline mutations in familial pancreatic cancer.

PMID 18983535 2008 CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

PMID 15150307 2004 Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families.

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PMID 21244692 2011 Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

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PMID 18297428 2009 Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breast cancer cell lines.

PMID 15535844 2004 Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women.

PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

PMID 22114986 2011 CHEK2 contribution to hereditary breast cancer in non-BRCA families.

PMID 19782031 2009 Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 11298456 2001 The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

PMID 12049740 2002 Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.

PMID 11053450 2001 Characterization of tumor-associated Chk2 mutations.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 18571837 2008 Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer.

PMID 27798748 2017 Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.

PMID 15649950 2005 Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

PMID 16794575 2006 Trans-activation of the DNA-damage signalling protein kinase Chk2 by T-loop exchange.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

PMID 27751358 2016 Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

PMID 27621404 2016 Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

PMID 22862163 2012 CHEK2 gene alterations independently increase the risk of death from breast cancer in Bulgarian patients.

PMID 24595525 2014 Retroperitoneal dedifferentiated liposarcoma lacking MDM2 amplification in a patient with a germ line CHEK2 mutation.

PMID 29520813 2018 A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.

PMID 10617473 1999 Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

PMID 28495237 2017 Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

PMID 23552953 2013 Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 29368341 2018 Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

PMID 22901170 2012 The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis.

PMID 25583358 2015 CHEK2 mutations and the risk of papillary thyroid cancer.

PMID 23713947 2013 The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis.

PMID 25798211 2015 The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population.

PMID 21701879 2012 Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer.

PMID 22799331 2012 The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis.

PMID 11571648 2001 Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway.

PMID 20223004 2006 Pilot study on low penetrance breast and colorectal cancer predisposition markers in latvia.

PMID 21514219 2011 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

PMID 19876921 2010 CHEK2 mutations and HNPCC-related colorectal cancer.

PMID 15810020 2005 Association of two mutations in the CHEK2 gene with breast cancer.

PMID 12805407 2003 Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation.

PMID 18930998 2009 Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations.

PMID 17085682 2006 A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.

PMID 18996005 2009 The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.

PMID 16816021 2006 CHEK2 I157T associates with familial and sporadic colorectal cancer.

PMID 11901158 2002 Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the forkhead-associated domain.

PMID 15803365 2005 Pathology of breast cancer in women with constitutional CHEK2 mutations.

PMID 15087378 2004 A novel founder CHEK2 mutation is associated with increased prostate cancer risk.

PMID 15239132 2004 CHEK2 variant I157T may be associated with increased breast cancer risk.

PMID 11390408 2001 The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation.

PMID 25318351 2015 Use of panel tests in place of single gene tests in the cancer genetics clinic.

PMID 12909615 2003 Karyopherin-alpha2 protein interacts with Chk2 and contributes to its nuclear import.

PMID 24879340 2014 Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 25619829 2015 A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.

PMID 27553368 2016 Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

PMID 12610780 2003 Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

PMID 16982735 2006 Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.

PMID 21562711 2011 Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations.

PMID 18058223 2008 Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations.

PMID 28125075 2017 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

PMID 27595995 2016 PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

PMID 26822237 2016 Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

PMID 21956126 2012 CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.

PMID 22811390 2013 BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

PMID 27269948 2016 Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 26641009 2016 Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

PMID 26884562 2016 Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.

PMID 21807500 2011 Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.

PMID 11967536 2002 Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.

PMID 15122511 2004 CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 28874143 2017 CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.

PMID 28734145 2017 Colorectal cancer risk associated with the CHEK2 1100delC variant.

PMID 24113346 2014 The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 27273131 2016 Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

PMID 27708748 2016 Prevalence of the CHEK2 R95* germline mutation.

PMID 18725978 2008 CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

PMID 17721994 2007 Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.

PMID 26022348 2015 HBOC multi-gene panel testing: comparison of two sequencing centers.

PMID 23960188 2013 DNA repair genes are selectively mutated in diffuse large B cell lymphomas.

PMID 28608266 2018 Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

PMID 27696107 2017 Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 28486781 2017 Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

PMID 31349801 2019 Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 26484312 2015 Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.

rs515726118 in DCTN5;PALB2 gene and Neoplastic Syndromes, Hereditary PMID 21618343 2011 Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

rs1131691194 in DICER1 gene and Neoplastic Syndromes, Hereditary PMID 23868280 2013 Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma.

PMID 21501861 2011 Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry.

PMID 19556464 2009 DICER1 mutations in familial pleuropulmonary blastoma.

PMID 25022261 2014 Germ-line and somatic DICER1 mutations in pineoblastoma.

PMID 26925222 2015 Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

PMID 25118636 2014 Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.

PMID 24839956 2014 Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

PMID 23728841 2013 Novel DICER1 mutation as cause of multinodular goiter in children.

PMID 21266384 2011 DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.

PMID 25451712 2015 DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter.

PMID 26886166 2016 Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung.

PMID 24909177 2014 Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.

rs63750648 in EPM2AIP1;MLH1 gene and Neoplastic Syndromes, Hereditary PMID 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

PMID 20864636 2010 A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

PMID 12537657 2002 An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC.

PMID 15475387 2004 Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 21404117 2011 Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.

PMID 10323887 1999 Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer.

PMID 9298827 1997 Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.

PMID 12810663 2003 A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

PMID 22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

PMID 16736289 2006 Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients.

PMID 16216036 2005 Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.

PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

PMID 25420488 2015 Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India.

PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.

rs104886456 in FANCC gene and Neoplastic Syndromes, Hereditary PMID 22701786 2012 A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10666230 2000 The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

PMID 15516848 2004 Fanconi anemia in Ashkenazi Jews.

PMID 8639804 1996 Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

PMID 8128956 1994 Mutation analysis of the Fanconi anemia gene FACC.

PMID 26778106 2016 The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.

PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 22778927 2012 Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

PMID 27577878 2017 Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

PMID 21659346 2011 Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

PMID 7689011 1993 A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.

PMID 20509860 2010 Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents.

PMID 28259476 2017 Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.

PMID 28125078 2017 Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

rs1057517764 in FBXO11;MSH6 gene and Neoplastic Syndromes, Hereditary PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

PMID 24323032 2014 Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 26687385 2016 Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

PMID 22081473 2012 Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 26552419 2015 Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

PMID 28528517 2017 Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

PMID 24689082 2014 A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 19194194 2009 Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient.

PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

PMID 19526325 2009 Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

PMID 22734033 2012 Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome.

PMID 17117178 2006 Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

PMID 20591884 2010 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

PMID 10508506 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations.

PMID 9307272 1997 Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.

PMID 25117503 2014 High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

PMID 28481244 2017 Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

PMID 9929971 1999 Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer.

PMID 26648449 2016 Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

PMID 23541221 2013 Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer.

PMID 12376742 2002 Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype.

PMID 16360201 2006 The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer.

PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

PMID 12732731 2003 Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.

PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.

PMID 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

PMID 24440087 2014 Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PMID 16616355 2006 Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.

PMID 15098177 2004 Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.

PMID 21155762 2011 Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

PMID 12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

PMID 23588873 2013 Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

PMID 18269114 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

PMID 19575290 2010 Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

PMID 22495361 2012 MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.

PMID 25648859 2015 Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.

PMID 28502729 2017 Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.

PMID 24244552 2013 Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.

PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

PMID 24933100 2014 Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.

PMID 27965287 2017 Clinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer.

PMID 25782445 2015 Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 21836479 2011 Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.

PMID 27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.

PMID 17531815 2007 Structure of the human MutSalpha DNA lesion recognition complex.

PMID 17718861 2007 Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC.

PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 12547705 2003 Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.

PMID 10471527 1999 hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden.

PMID 15236168 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

PMID 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

PMID 25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

PMID 25142776 2015 Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

PMID 14974087 2004 Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

PMID 18550572 2008 Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors.

PMID 15837969 2005 Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?

PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

PMID 17199584 2007 MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?

PMID 22250089 2012 Human MSH6 deficiency is associated with impaired antibody maturation.

PMID 27696107 2017 Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

PMID 26832770 2016 Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas.

PMID 22949379 2013 A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

PMID 21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

PMID 27398995 2016 Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

PMID 18409202 2008 Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

PMID 16525781 2006 Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

PMID 21039432 2011 Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

PMID 16418736 2006 Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

PMID 19072991 2009 Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.

PMID 25345868 2015 Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

PMID 24434690 2014 Prostate cancer incidence in males with Lynch syndrome.

PMID 23621914 2013 CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

PMID 22277660 2012 Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D).

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 11709755 2002 Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

PMID 15324697 2004 Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility.

PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.

PMID 10521294 1999 Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

PMID 29212164 2017 Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

PMID 28176205 2017 Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 16885385 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PMID 27723366 2016 Teenage colorectal polyposis and cancer may be caused by constitutional mismatch repair deficiency (CMMRD).

PMID 28466842 2017 Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

PMID 26517685 2015 Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

PMID 16736289 2006 Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients.

PMID 28765196 2017 In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.

PMID 10938287 2000 Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit.

PMID 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

PMID 21868491 2012 Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

rs1060499635 in FH gene and Neoplastic Syndromes, Hereditary PMID 22982371 2013 Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer.

PMID 24419633 2014 Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.

PMID 20618355 2011 Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

PMID 22561013 2012 Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis.

PMID 21398687 2011 Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

PMID 15937070 2006 Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

PMID 21445611 2011 Structural basis of fumarate hydratase deficiency.

PMID 9665847 1998 Crystal structures of native and recombinant yeast fumarase.

PMID 21904061 2011 Structure of fumarate hydratase from Rickettsia prowazekii, the agent of typhus and suspected relative of the mitochondria.

PMID 25923021 2015 Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.

PMID 16597677 2006 Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

PMID 11865300 2002 Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

PMID 16029320 2005 Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.

PMID 23211287 2013 Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome.

PMID 24625422 2014 Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a rapid autopsy report of metastatic renal cell carcinoma.

PMID 21630274 2011 Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.

PMID 12761039 2003 Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

PMID 26900816 2016 Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.

PMID 16757530 2006 Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.

PMID 19939761 2010 Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.

PMID 12183404 2002 Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.

PMID 25477250 2015 Hereditary leiomyomatosis associated with renal cell carcinoma.

PMID 16155190 2006 Increased risk of cancer in patients with fumarate hydratase germline mutation.

PMID 12772087 2003 Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.

PMID 27051714 2015 Reed syndrome presenting with leiomyosarcoma.

PMID 21733559 2011 Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.

PMID 18176756 2008 Single base mutation in the fumarate hydratase gene leading to segmental cutaneous leiomyomatosis.

PMID 21404119 2011 Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.

PMID 25012257 2014 Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.

PMID 22595425 2012 Mild fumarase deficiency and a trial of low protein diet.

PMID 15987702 2005 Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

PMID 22069215 2012 Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.

PMID 16237213 2005 Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.

PMID 16575891 2006 Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 21560188 2011 Clinical and biochemical heterogeneity associated with fumarase deficiency.

PMID 21340633 2011 High-throughput structural biology of metabolic enzymes and its impact on human diseases.

PMID 19151755 2009 Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.

PMID 28747166 2017 Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

PMID 16876016 2006 Fumarate hydratase deficiency in monozygotic twins.

PMID 18313410 2008 Differential metabolic consequences of fumarate hydratase and respiratory chain defects.

PMID 15221078 2004 A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency.

PMID 10896297 2000 Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.

PMID 22764886 2013 Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.

PMID 16151915 2005 Fumarase deficiency presenting with periventricular cysts.

PMID 24441663 2014 Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.

PMID 16510303 2006 Molecular and biochemical investigations in fumarase deficiency.

PMID 25985877 2015 Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC).

PMID 9300800 1997 Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.

PMID 23612258 2013 Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.

PMID 9635293 1998 Molecular analysis and prenatal diagnosis of human fumarase deficiency.

PMID 24182348 2013 Fumarase deficiency in dichorionic diamniotic twins.

PMID 18366737 2008 The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

PMID 16639410 2006 Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 17392716 2007 Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.

PMID 25004247 2014 Germline FH mutations presenting with pheochromocytoma.

PMID 20549362 2010 Fumaric aciduria: an overview and the first Brazilian case report.

PMID 15761418 2005 Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.

PMID 18514489 2008 Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene.

PMID 22086304 2012 Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.

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PMID 29720200 2018 Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.

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PMID 23386036 2013 Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.

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PMID 27906882 2016 Familial pneumothoraces: Birt-Hogg-Dubé syndrome.

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PMID 22571569 2012 Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.

PMID 22725638 2012 Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited.

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rs137852929 in FLCN;MPRIP gene and Neoplastic Syndromes, Hereditary PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 12204536 2002 Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 22679611 2012 Birt-Hogg-Dubé syndrome: report of a new mutation.

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PMID 28151982 2017 Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.

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PMID 18794106 2008 Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

PMID 21506000 2011 Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011.

PMID 25594584 2015 Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.

PMID 28558743 2017 Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.

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PMID 19457309 2009 [Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].

PMID 15805188 2005 Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

rs138213197 in HOXB13 gene and Neoplastic Syndromes, Hereditary PMID 23064873 2013 HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).

PMID 23292082 2013 HOXB13 G84E mutation in Finland: population-based analysis of prostate, breast, and colorectal cancer risk.

PMID 23393222 2013 The G84E mutation of HOXB13 is associated with increased risk for prostate cancer: results from the REDUCE trial.

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PMID 22841674 2014 A population-based assessment of germline HOXB13 G84E mutation and prostate cancer risk.

PMID 24310616 2014 Prevalence of the HOXB13 G84E mutation among unaffected men with a family history of prostate cancer.

PMID 25629170 2015 Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort.

PMID 15964834 2005 Hoxb13 up-regulates transglutaminase activity and drives terminal differentiation in an epidermal organotypic model.

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PMID 22714738 2012 Confirmation of the HOXB13 G84E germline mutation in familial prostate cancer.

PMID 28798948 2017 HOXB13 mutations and binding partners in prostate development and cancer: Function, clinical significance, and future directions.

PMID 26517352 2015 Germline HOXB13 p.Gly84Glu mutation and cancer susceptibility: a pooled analysis of 25 epidemiological studies with 145,257 participates.

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PMID 28050579 2016 Oncogenic mechanisms of HOXB13 missense mutations in prostate carcinogenesis.

PMID 17138648 2007 Posterior Hox gene expression and differential androgen regulation in the developing and adult rat prostate lobes.

PMID 26108461 2015 The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies.

PMID 8756292 1996 Hoxb-13: a new Hox gene in a distant region of the HOXB cluster maintains colinearity.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 27902461 2017 Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.

PMID 23541221 2013 Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer.

PMID 27424772 2016 Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.

PMID 22236224 2012 Germline mutations in HOXB13 and prostate-cancer risk.

PMID 24026887 2014 G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis.

rs377260382 in IL5;RAD50 gene and Neoplastic Syndromes, Hereditary PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 10415333 1999 Molecular cloning and characterization of splice variants of human RAD50 gene.

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PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

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rs1064794096 in KLLN;PTEN gene and Neoplastic Syndromes, Hereditary PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

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PMID 25875300 2015 A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.

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PMID 10232405 1999 Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.

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rs387906651 in LOC100506321;MAX gene and Neoplastic Syndromes, Hereditary PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27838885 2017 Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

PMID 22452945 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

PMID 21685915 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

rs1060502292 in LOC100507346;PTCH1 gene and Neoplastic Syndromes, Hereditary PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

rs876658658 in LOC105371722;NF1;MIR4733 gene and Neoplastic Syndromes, Hereditary PMID 15523626 2004 Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene.

rs1555605074 in LOC105371843;RAD51C gene and Neoplastic Syndromes, Hereditary PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 23500037 2013 Regulation of nonsense-mediated mRNA decay: implications for physiology and disease.

PMID 21447597 2011 UniProt Knowledgebase: a hub of integrated protein data.

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PMID 22538716 2012 Germline RAD51C mutations confer susceptibility to ovarian cancer.

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PMID 26057125 2015 Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.

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rs1131690870 in LOC112268118;RB1 gene and Neoplastic Syndromes, Hereditary PMID 8651278 1996 The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

PMID 17960112 2007 Ten novel RB1 gene mutations in patients with retinoblastoma.

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PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

PMID 14722923 2004 Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

PMID 7704558 1994 Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.

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PMID 26396485 2015 Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

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PMID 25928201 2015 Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

PMID 15884040 2005 Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

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PMID 9311732 1997 Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

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PMID 9506756 1998 Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.

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PMID 10664520 2000 MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

PMID 9888389 1999 Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

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PMID 15670192 2005 Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

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PMID 11578300 2001 Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1.

PMID 12509449 2003 The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.

PMID 11524904 2001 10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods.

PMID 19074834 2008 Menin promotes the Wnt signaling pathway in pancreatic endocrine cells.

PMID 9989505 1999 Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

PMID 12213668 2002 Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.

PMID 9463336 1998 Characterization of mutations in patients with multiple endocrine neoplasia type 1.

PMID 9103196 1997 Positional cloning of the gene for multiple endocrine neoplasia-type 1.

PMID 25309785 2014 Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

PMID 18753104 2009 Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a rare splicing site MEN1 gene mutation.

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PMID 23093699 2013 MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism.

PMID 15635078 2005 A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

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PMID 20833329 2010 Multiple endocrine neoplasia type 1 (MEN1).

PMID 16563611 2006 Characteristics of the Danish families with multiple endocrine neoplasia type 1.

PMID 15026366 2004 Menin inactivation leads to loss of transforming growth factor beta inhibition of parathyroid cell proliferation and parathyroid hormone secretion.

PMID 9832038 1998 Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

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PMID 10730900 1999 Multiple endocrine neoplasia type 1.

PMID 26767918 2016 Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years.

PMID 10027401 1999 Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms.

PMID 10576763 1999 Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

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PMID 10980535 2000 Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia.

PMID 9215690 1997 Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

PMID 22666734 2012 Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1.

PMID 9747036 1998 Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.

PMID 15254225 2004 Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.

PMID 12807514 2003 Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese.

PMID 11454510 2001 Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?

PMID 17711922 2007 Secretin-receptor and secretin-receptor-variant expression in gastrinomas: correlation with clinical and tumoral features and secretin and calcium provocative test results.

PMID 9354421 1997 Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas.

rs104894264 in MEN1;MAP4K2 gene and Neoplastic Syndromes, Hereditary PMID 15254225 2004 Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.

PMID 21819486 2011 Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

PMID 26905068 2016 Multiple endocrine neoplasia type 1 syndrome: single centre experience from western India.

PMID 25309785 2014 Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

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PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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PMID 8566964 1996 CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

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PMID 8776590 1996 DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.

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PMID 15139004 2004 HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

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PMID 8863153 1996 Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.

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PMID 16830052 2006 Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.

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PMID 28445943 2017 A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.

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PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PMID 29238914 2018 Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Biliary Tract Cancers Associated with Lynch Syndrome.

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PMID 11748856 2001 Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

PMID 15235038 2004 Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.

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PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.

PMID 10323887 1999 Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer.

PMID 7704024 1995 Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.

PMID 8145827 1994 Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

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PMID 24333619 2014 Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.

PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.

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PMID 28135145 2017 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

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PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

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PMID 20045164 2010 Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers.

PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

PMID 21247423 2011 Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

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PMID 14985405 2004 A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

PMID 25389437 2014 Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome.

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PMID 21840485 2011 Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.

PMID 24084575 2014 The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

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PMID 10734316 2000 Microsatellite instability and the PTEN1 gene mutation in a subset of early onset gliomas carrying germline mutation or promoter methylation of the hMLH1 gene.

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PMID 20704743 2010 A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.

PMID 22949379 2013 A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

PMID 12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 25345868 2015 Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

PMID 12658575 2003 Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

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PMID 20413710 2010 Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

PMID 28499369 2017 Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.

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PMID 12471204 2002 Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

PMID 21401403 2011 Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome.

PMID 17124507 2007 Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.

PMID 27734835 2017 Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

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PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 26659639 2016 Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

PMID 23741947 2013 When the chest is clueless, look downstairs.

PMID 28869776 2018 Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?

PMID 26028485 2015 Possible familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: A possible link between these two disease entities.

PMID 26387484 2015 Perifollicular fibromas associated with Birt-Hogg-Dubé syndrome.

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PMID 26581862 2019 Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.

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PMID 22863007 2012 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

PMID 10612394 1999 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.

PMID 23436002 2013 Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder.

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PMID 15269180 2004 MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

PMID 11371508 2001 hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.

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PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

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PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

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PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

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PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 27713421 2017 Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome.

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PMID 27863258 2017 Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.

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PMID 24903654 2015 Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience.

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PMID 15849733 2005 Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

PMID 24278394 2013 Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

PMID 27629256 2017 Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

PMID 21156417 2010 A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family.

PMID 17531815 2007 Structure of the human MutSalpha DNA lesion recognition complex.

PMID 16216036 2005 Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.

PMID 21590452 2011 Early-onset colorectal cancer is an easy and effective tool to identify retrospectively Lynch syndrome.

PMID 21549480 2012 Recombinant human bone morphogenetic protein 2 combined with an osteoconductive bulking agent for mandibular continuity defects in nonhuman primates.

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PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 15520370 2004 Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.

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PMID 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

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PMID 18270343 2008 The frequency of Muir-Torre syndrome among Lynch syndrome families.

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PMID 12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.

PMID 20591884 2010 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

PMID 18759827 2008 Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening.

PMID 15926618 2005 Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer.

PMID 10480359 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

PMID 12112654 2002 Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.

PMID 19723918 2009 Germ-line mutations in mismatch repair genes associated with prostate cancer.

PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.

PMID 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

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PMID 20388775 2010 Somatic hypermethylation of MSH2 is a frequent event in Lynch Syndrome colorectal cancers.

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PMID 14970868 2004 Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

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PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 9311737 1997 Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

PMID 17250665 2007 Effectiveness of the CRCAPRO program in identifying patients suspected for HNPCC.

PMID 12414824 2002 Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation.

PMID 16803540 2007 MSH2 splice site mutation and endometrial cancer.

PMID 17569143 2007 Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.

PMID 11809679 2002 A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.

PMID 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

PMID 12436451 2002 Antibody-based screening for hereditary nonpolyposis colorectal carcinoma compared with microsatellite analysis and sequencing.

PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

PMID 11772966 2002 Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients.

PMID 19254532 2009 Deciphering the mismatch recognition cycle in MutS and MSH2-MSH6 using normal-mode analysis.

PMID 23056405 2012 Predicting the functional effect of amino acid substitutions and indels.

PMID 18772310 2008 Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

PMID 14668545 2004 Molecular analysis of endometrial hyperplasia in HNPCC-suspicious patients may predict progression to endometrial carcinoma.

PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

PMID 26951660 2016 Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

PMID 26053027 2015 Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.

PMID 12624141 2003 Cancer risk in 348 French MSH2 or MLH1 gene carriers.

PMID 19419416 2009 Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.

PMID 23690608 2013 Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

PMID 28422960 2017 Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

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PMID 18307539 2008 Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non-polyposis colorectal cancer: a cost-effective screening strategy proposal.

PMID 17189986 2006 Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history.

PMID 17199584 2007 MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?

PMID 25504677 2015 Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients.

PMID 18033691 2008 Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

PMID 11074494 2000 Aberrant RNA splicing in the hMSH2 gene: molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland.

PMID 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

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PMID 10422993 1999 Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.

PMID 17661183 2008 A novel MSH2 germline mutation in a Druze HNPCC family.

PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

PMID 7717919 1994 Direct mutational analysis in a family with hereditary non-polyposis colorectal cancer.

PMID 16616355 2006 Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.

PMID 17720936 2007 Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

PMID 21309037 2011 Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells.

PMID 18822302 2008 Functional analysis of HNPCC-related missense mutations in MSH2.

PMID 16116158 2005 Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.

PMID 19072991 2009 Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.

PMID 25117503 2014 High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

PMID 12385013 2002 After hMSH2 and hMLH1--what next? Analysis of three-generational, population-based, early-onset colorectal cancer families.

PMID 20672385 2010 Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 18781619 2008 MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

PMID 8261515 1993 Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.

PMID 11920458 2002 Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma.

PMID 24100870 2013 Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.

PMID 14500346 2003 BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair.

PMID 25420488 2015 Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 15342696 2004 BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.

PMID 26300997 2015 Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

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PMID 12658575 2003 Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

PMID 15235034 2004 Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma.

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PMID 12124176 2002 HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.

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PMID 9125109 1997 Mapping the minimal domain of hMSH-2 sufficient for binding mismatched oligonucleotides.

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PMID 26552419 2015 Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

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PMID 22034109 2012 Evidence for breast cancer as an integral part of Lynch syndrome.

PMID 16736289 2006 Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients.

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PMID 24851142 2014 Familial cancer among consecutive uterine cancer patients in Sweden.

PMID 16996571 2006 Medullary carcinoma of the pancreas in a man with hereditary nonpolyposis colorectal cancer due to a mutation of the MSH2 mismatch repair gene.

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PMID 20215533 2010 Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.

PMID 15345113 2004 Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India.

PMID 28176205 2017 Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.

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PMID 22234272 2012 Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers.

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PMID 16500024 2006 New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.

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PMID 20010080 2010 Genealogical tree study as screening method in the Lynch syndrome prior to genetic test.

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PMID 12200596 2002 Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer.

PMID 17601929 2007 Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.

PMID 19669601 2009 Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing.

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PMID 29025352 2018 Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes.

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PMID 24244552 2013 Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.

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PMID 10564582 2000 Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer.

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PMID 15350299 2004 Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes.

PMID 12949792 2003 Stromal expression of invasion-promoting, matrix-degrading proteases MMP-1 and -9 and the Ets 1 transcription factor in HNPCC carcinomas and sporadic colorectal cancers.

PMID 11393127 2001 Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: report of two families in Taiwan.

PMID 9036882 1997 Low frequency of hMSH2 mutations in Swedish HNPCC families.

PMID 24114314 2014 Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.

PMID 24501230 2014 Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.

PMID 18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 2210261 1990 Misdiagnosis of the Zollinger-Ellison syndrome due to hyperlipidemia.

PMID 17192056 2006 The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.

PMID 11857745 2002 A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.

PMID 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

PMID 18521850 2008 The first functional study of MLH3 mutations found in cancer patients.

PMID 17101317 2006 Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.

PMID 25194673 2014 Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

PMID 28577310 2017 Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

PMID 17653898 2007 Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.

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PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

PMID 22712459 2012 The molecular origin of the MMR-dependent apoptosis pathway from dynamics analysis of MutSα-DNA complexes.

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PMID 16311127 2005 Breast cancer in an MSH2 gene mutation carrier.

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PMID 11231323 2001 """Second hit"" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation."

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PMID 17473388 2007 A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.

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PMID 20176959 2010 Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

PMID 11048710 2000 Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA.

PMID 8931714 1996 Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?

PMID 11606497 2001 The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer.

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PMID 8566964 1996 CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

PMID 26648449 2016 Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

PMID 16476474 2006 Occult endometrial cancer and decision making for prophylactic hysterectomy in hereditary nonpolyposis colorectal cancer patients.

PMID 15365996 2004 Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.

PMID 14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.

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PMID 15178966 1998 Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics.

PMID 10448273 1999 Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer.

PMID 9506527 1998 MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer.

PMID 26485756 2015 Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

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PMID 18289827 2008 Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation.

PMID 15655560 2005 hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.

PMID 10995807 2000 Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.

PMID 23170986 2013 The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

PMID 17026620 2006 Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes.

PMID 22322191 2012 Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.

PMID 17846840 2007 Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Argentina: report from a referral hospital register.

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PMID 20233461 2004 Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis.

PMID 11420466 2001 Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesis.

PMID 11112663 2001 Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.

PMID 12655562 2003 Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.

PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

PMID 17348456 2007 Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.

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PMID 27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.

PMID 25307252 2015 The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

PMID 26440929 2015 Identification of germline genetic mutations in patients with pancreatic cancer.

PMID 10528862 1999 A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening.

PMID 16199548 2005 The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.

PMID 12454801 2002 The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

PMID 19101824 2009 Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

PMID 26544533 2016 Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.

PMID 17054581 2006 Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.

PMID 17095871 2006 Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany.

PMID 24323032 2014 Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

PMID 10495924 1999 Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1.

PMID 26659639 2016 Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

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PMID 23612316 2013 Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.

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PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

PMID 11179758 2001 DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.

PMID 8521394 1995 Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.

PMID 7937795 1994 Genetic instability in human ovarian cancer cell lines.

PMID 15340264 2004 Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients.

PMID 17074586 2006 Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients.

PMID 10077621 1999 Mutator phenotypes of yeast strains heterozygous for mutations in the MSH2 gene.

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PMID 9777949 1998 Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.

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PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

PMID 11720433 2001 Minisatellite instability is found in colorectal tumours with mismatch repair deficiency.

PMID 15858146 2005 Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods.

PMID 10523644 1999 Separation-of-function mutations in Saccharomyces cerevisiae MSH2 that confer mismatch repair defects but do not affect nonhomologous-tail removal during recombination.

PMID 12324578 2002 The novel germline mutation of hMSH2 gene in a case of a colon cancer patient without family history.

PMID 11870161 2002 Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.

PMID 15845562 2005 Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.

PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

PMID 10196371 1999 Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.

PMID 27398995 2016 Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

PMID 26247049 2015 Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 27432916 2016 DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics.

PMID 22179786 2011 Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops.

PMID 28765196 2017 In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.

PMID 18809606 2008 Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

PMID 25213213 2015 Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy.

PMID 24969397 2014 Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients.

PMID 20052760 2010 Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.

PMID 25872134 2015 HNPCC-associated pheochromocytoma: expanding the tumor spectrum.

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PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 17909073 2007 Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.

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PMID 28135145 2017 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

PMID 29485237 2018 Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.

PMID 28125075 2017 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

PMID 25318681 2015 Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

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PMID 25740784 2015 Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

PMID 17117178 2006 Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

PMID 24040339 2013 Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

PMID 28531214 2017 Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

PMID 16203774 2005 High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.

PMID 22851212 2012 Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment.

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 24323032 2014 Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 25782445 2015 Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.

PMID 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

PMID 28874130 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

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PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.

PMID 22081473 2012 Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.

PMID 10508506 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations.

PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

PMID 22495361 2012 MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.

PMID 21836479 2011 Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.

PMID 19324997 2009 Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

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PMID 25617771 2015 Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.

PMID 28195393 2017 Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

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PMID 26318770 2015 Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 16418736 2006 Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 21674763 2011 High-grade brain tumors in siblings with biallelic MSH6 mutations.

PMID 18409202 2008 Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

PMID 21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.

PMID 25255306 2014 Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer.

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

PMID 24689082 2014 A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

PMID 24440087 2014 Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

PMID 26440929 2015 Identification of germline genetic mutations in patients with pancreatic cancer.

PMID 21155762 2011 Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

PMID 22219001 2012 The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer.

PMID 25307252 2015 The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

PMID 19851887 2010 An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.

PMID 27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.

PMID 23294250 2013 Loss of mismatch repair protein expression in breast carcinoma in patients with Lynch Syndrome: report of two cases.

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PMID 17531815 2007 Structure of the human MutSalpha DNA lesion recognition complex.

PMID 22581703 2012 Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

PMID 23621914 2013 CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

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PMID 26552419 2015 Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

PMID 18809606 2008 Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

PMID 29348823 2017 Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

PMID 26437257 2015 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

PMID 25093288 2014 Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary.

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PMID 24506336 2014 Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

PMID 28153049 2017 Longitudinal analysis of treatment-induced genomic alterations in gliomas.

PMID 28528517 2017 Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

PMID 18790734 2008 Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.

PMID 25117503 2014 High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

PMID 19698169 2009 Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 20379851 2010 Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma.

PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.

PMID 18415027 2008 Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 15236168 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

PMID 25318681 2015 Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

PMID 22306203 2012 Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.

PMID 17323113 2007 An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.

PMID 28283864 2017 Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series.

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PMID 19723918 2009 Germ-line mutations in mismatch repair genes associated with prostate cancer.

PMID 18307539 2008 Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non-polyposis colorectal cancer: a cost-effective screening strategy proposal.

PMID 18176851 2008 Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation.

PMID 8071216 1994 Dominant negative mutator mutations in the mutS gene of Escherichia coli.

PMID 14974087 2004 Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

PMID 21247423 2011 Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

PMID 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

PMID 19459153 2009 High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

PMID 12732731 2003 Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.

PMID 27456091 2016 A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer.

PMID 23612316 2013 Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.

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PMID 15217520 2004 HNPCC: six new pathogenic mutations.

PMID 28460341 2017 A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PMID 19575290 2010 Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

PMID 25648859 2015 Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.

PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.

PMID 17909073 2007 Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.

PMID 16616355 2006 Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.

PMID 26333163 2015 Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 20924129 2010 MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

PMID 26666765 2016 Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis.

PMID 18269114 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

PMID 17653898 2007 Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

PMID 21431882 2011 A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one.

PMID 15354210 2004 MSH6 missense mutations are often associated with no or low cancer susceptibility.

PMID 22290698 2012 Classification of mismatch repair gene missense variants with PON-MMR.

PMID 23056405 2012 Predicting the functional effect of amino acid substitutions and indels.

PMID 22658618 2012 ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

PMID 26446363 2016 Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal.

PMID 21868491 2012 Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

PMID 22179786 2011 Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops.

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PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

PMID 24278394 2013 Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

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PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

PMID 12393807 2002 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

PMID 17874208 2008 Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin.

PMID 28533537 2017 Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

PMID 26902849 2016 Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas.

PMID 19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

PMID 17369389 2007 Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer.

PMID 15635083 2005 The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.

PMID 27194394 2016 Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

PMID 25590978 2015 Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

PMID 12853198 2003 Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

PMID 16557584 2006 MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

PMID 17949294 2007 Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

PMID 19394335 2009 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

PMID 20848659 2010 Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

PMID 12606733 2003 Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

PMID 20618354 2010 MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

PMID 19793053 2009 APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

PMID 16455870 2006 Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer.

PMID 26446593 2016 Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

PMID 16287072 2006 Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.

PMID 16134147 2005 Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

PMID 17081686 2007 Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 23108399 2013 Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

PMID 27870730 2016 Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome.

PMID 24444654 2014 Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.

PMID 24569162 2014 Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.

PMID 25820570 2015 Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

PMID 23605219 2014 MUTYH-associated colorectal cancer and adenomatous polyposis.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 16890597 2006 Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.

PMID 15366000 2004 Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

PMID 16207212 2005 Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.

PMID 11092888 2001 Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair.

PMID 28873162 2017 Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

PMID 17219385 2007 Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients.

PMID 15761860 2005 Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.

PMID 18515411 2008 Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 15890374 2005 Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.

PMID 22865608 2013 MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.

PMID 19506731 2008 MUTYH Associated Polyposis (MAP).

PMID 23561487 2013 Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

PMID 15673720 2005 Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis.

PMID 17931073 2007 The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.

PMID 14991577 2004 Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.

PMID 23361220 2014 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

PMID 21063410 2010 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

PMID 16338133 2006 Relative and absolute risk of colorectal cancer for individuals with a family history: a meta-analysis.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 27631816 2017 Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 22744763 2012 High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

PMID 22926731 2012 Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.

PMID 22473953 2012 MUTYH gene expression and alternative splicing in controls and polyposis patients.

PMID 21952991 2012 MutYH mutation carriers have increased breast cancer risk.

PMID 22297469 2012 MUTYH gene variants and breast cancer in a Dutch case–control study.

PMID 22158503 2012 MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.

PMID 16941501 2006 Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

PMID 22538434 2012 French experts report on MUTYH-associated polyposis (MAP).

PMID 19806110 2009 Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis.

PMID 18787472 2008 Duodenal adenocarcinoma and Mut Y human homologue-associated polyposis.

PMID 20191381 2010 Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.

PMID 23007840 2013 Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

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PMID 25937855 2014 Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.

PMID 16140997 2005 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

PMID 19031083 2009 Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis.

PMID 23322991 2012 Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.

PMID 25938944 2015 A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.

PMID 24691292 2015 Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.

PMID 20418187 2010 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.

PMID 19953527 2010 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

PMID 12707038 2003 Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.

PMID 19531215 2009 Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

PMID 15188161 2004 High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis.

PMID 17674103 2007 Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.

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PMID 24799981 2014 Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

PMID 22641385 2012 Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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PMID 11801590 2002 Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

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PMID 20223003 2006 MYH Gene Status in Polish FAP Patients without APC Gene Mutations.

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PMID 19527492 2009 Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas.

PMID 15465463 2004 Colorectal cancer and inherited mutations in base-excision repair.

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PMID 17703316 2007 Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.

PMID 25931827 2015 The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.

PMID 21235684 2011 DNA glycosylase encoded by MUTYH functions as a molecular switch for programmed cell death under oxidative stress to suppress tumorigenesis.

PMID 25892863 2015 Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

PMID 18091433 2007 Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.

PMID 21195604 2011 First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

PMID 19279422 2009 Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.

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PMID 25151137 2015 Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.

PMID 27253753 2017 Reduced expression of the DNA glycosylase gene MUTYH is associated with an increased number of somatic mutations via a reduction in the DNA repair capacity in prostate adenocarcinoma.

PMID 26694661 2016 Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

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PMID 25856671 2015 Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.

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PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

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PMID 26083025 2015 Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.

PMID 27150568 2016 The c.657del5 variant in the NBN gene predisposes to pancreatic cancer.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

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PMID 25485873 2014 Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.

PMID 24113799 2013 Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 19908051 2010 Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

PMID 23765759 2013 Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk.

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PMID 28374160 2017 A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.

PMID 18593981 2008 Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.

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PMID 23149842 2013 An inherited NBN mutation is associated with poor prognosis prostate cancer.

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PMID 10712197 2000 Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

PMID 27305697 2016 Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience.

PMID 15146469 2004 Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

PMID 22222937 2012 An histologically atypical NF-type 1 patient with a new pathogenic mutation.

PMID 23583981 2013 Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.

PMID 9180088 1997 Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.

PMID 23913538 2013 NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

PMID 21354044 2011 A highly sensitive genetic protocol to detect NF1 mutations.

PMID 11115850 2000 Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.

PMID 19061981 2009 Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression.

PMID 11431704 2001 Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.

PMID 23322702 2013 A new NF1 variant in a patient with atypical manifestations.

PMID 18484666 2008 Germline and somatic NF1 gene mutations in plexiform neurofibromas.

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 18041031 2007 Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

PMID 16138229 2005 High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1.

PMID 21031597 2011 Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

PMID 22155606 2011 Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

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PMID 24932921 2014 Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

PMID 24789688 2014 Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 14517963 2003 Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors.

PMID 26740943 2015 126 novel mutations in Italian patients with neurofibromatosis type 1.

PMID 16825284 2006 An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

PMID 11967553 2002 Listening to silence and understanding nonsense: exonic mutations that affect splicing.

PMID 25480383 2015 Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 17311297 2007 Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

PMID 24710307 2014 A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice.

PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 9687500 1998 Structural analysis of the GAP-related domain from neurofibromin and its implications.

PMID 9219684 1997 The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants.

PMID 19142971 2009 Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.

PMID 26969325 2016 No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

PMID 21838856 2011 Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

PMID 26056819 2015 Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

PMID 12807981 2003 Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

PMID 29415745 2018 Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.

PMID 27716896 2017 Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

PMID 2114220 1990 A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

PMID 8845843 1996 Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31.

PMID 23758643 2013 Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

PMID 23668869 2013 Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

PMID 11258625 2001 Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

PMID 12566521 2003 Independent NF1 mutations in two large families with spinal neurofibromatosis.

PMID 15060124 2004 Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

PMID 7607663 1995 Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.

PMID 17353900 2007 Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.

PMID 17514731 2008 A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.

PMID 12552569 2003 NF1 gene analysis based on DHPLC.

PMID 17426081 2007 Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

PMID 12112660 2002 Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

PMID 10862084 2000 Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

PMID 9003501 1997 Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

PMID 8628317 1996 Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles.

PMID 22807134 2012 Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

PMID 12787671 2003 Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP.

PMID 25324867 2014 Neurofibromatosis type 1: a single center's experience in Korea.

PMID 23010473 2012 Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.

PMID 15863657 2005 Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

PMID 22664660 2012 Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

PMID 27838393 2017 Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

PMID 17103458 2006 A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

PMID 7655472 1995 Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

PMID 9668168 1998 Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

PMID 26478990 2015 A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

PMID 27322474 2016 Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

PMID 24413922 2014 The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

PMID 12387455 2002 Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.

PMID 11476066 2001 Limited contribution of interchromosomal gene conversion to NF1 gene mutation.

PMID 16479075 2006 The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 10980545 2000 NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.

PMID 26076063 2015 NF1 Mutations Are Common in Desmoplastic Melanoma.

PMID 9150739 1997 Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.

PMID 12522551 2003 Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

PMID 9101300 1997 Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 8664912 1996 Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.

PMID 19738042 2009 Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

PMID 21532985 2011 Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.

PMID 17160901 2007 An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

PMID 7904209 1993 Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.

PMID 20602485 2010 NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

PMID 10076878 1999 Two independent mutations in a family with neurofibromatosis type 1 (NF1).

PMID 16199547 2005 Splicing in action: assessing disease causing sequence changes.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 25541118 2015 [Phenotypic and genetic features in neurofibromatosis type 1 in children].

PMID 27482814 2016 Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.

PMID 27171602 2016 Exploring the genetic basis for clinical variation in neurofibromatosis type 1.

PMID 26973730 2016 De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging.

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 26908603 2016 NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.

PMID 25966637 2015 Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 26706011 2015 Advances in Molecular Diagnosis of Neurofibromatosis Type 1.

PMID 19292874 2009 Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

PMID 14569132 2003 Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.

PMID 18503770 2008 The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.

PMID 22925204 2013 Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.

PMID 16773574 2006 Double inactivation of NF1 in tibial pseudarthrosis.

PMID 8544190 1995 Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 16961930 2006 Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

PMID 9783703 1998 Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

PMID 26514327 2016 Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

PMID 25788518 2015 Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

PMID 12095621 2002 Quantification of NF1 transcripts reveals novel highly expressed splice variants.

PMID 15523642 2004 Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

PMID 9463322 1998 Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

PMID 24506781 2014 Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

PMID 19241459 2009 Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.

PMID 8829638 1996 Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.

PMID 22489043 2012 Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.

PMID 8069310 1994 Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).

PMID 16786508 2006 The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

PMID 8081387 1994 Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

PMID 25293717 2015 Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

PMID 15627836 2005 Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae.

PMID 27862945 2017 Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

PMID 16005615 2005 Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.

PMID 17726231 2007 Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.

PMID 16306205 2005 Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.

PMID 22108604 2012 Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

PMID 24694336 2014 Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

PMID 25403449 2015 Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma.

PMID 16414076 2006 Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke.

PMID 21280148 2011 Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).

PMID 11857752 2002 NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

rs786203307 in NF1;MIR4733;LOC105371722 gene and Neoplastic Syndromes, Hereditary PMID 10712197 2000 Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

rs118203997 in PALB2 gene and Neoplastic Syndromes, Hereditary PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21285249 2011 Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

PMID 17200672 2007 Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

PMID 23935836 2013 Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

PMID 17200671 2007 Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

PMID 21165770 2011 PALB2 mutations in German and Russian patients with bilateral breast cancer.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 22241545 2012 Rare germline mutations in PALB2 and breast cancer risk: a population-based study.

PMID 21365267 2011 PALB2 mutations in familial breast and pancreatic cancer.

PMID 17200668 2007 PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

PMID 26641009 2016 Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

PMID 26283626 2015 Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

PMID 21618343 2011 Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

PMID 24870022 2014 Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.

PMID 25099575 2014 Breast-cancer risk in families with mutations in PALB2.

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 26564480 2015 Mutation analysis of PALB2 gene in French breast cancer families.

PMID 24136930 2013 The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

PMID 23448497 2013 Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

PMID 21409391 2011 BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.

PMID 19264984 2009 Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.

PMID 18446436 2009 The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 23977390 2013 Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.

PMID 17420451 2007 Analysis of PALB2/FANCN-associated breast cancer families.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 23935381 2013 PALB2 and breast cancer: ready for clinical translation!

PMID 24556926 2014 PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.

PMID 27624329 2016 Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.

PMID 21184274 2011 PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer.

PMID 19763884 2010 A PALB2 germline mutation associated with hereditary breast cancer in Italy.

PMID 18302019 2009 Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 27553368 2016 Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

PMID 25337756 2014 Breast-cancer risk in families with mutations in PALB2.

PMID 28024868 2017 Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

PMID 20412113 2010 PALB2 mutations in European familial pancreatic cancer families.

PMID 24448499 2014 Integrated analysis of germline and somatic variants in ovarian cancer.

PMID 23941127 2013 Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.

PMID 19383810 2009 The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 17287723 2007 A recurrent mutation in PALB2 in Finnish cancer families.

PMID 18628482 2008 Penetrance analysis of the PALB2 c.1592delT founder mutation.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 24415441 2014 Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

PMID 27783279 2017 Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer.

PMID 27798748 2017 Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.

PMID 23341105 2013 Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.

PMID 23302520 2013 Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.

PMID 18053174 2007 Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.

PMID 26489409 2015 PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.

PMID 22692731 2012 Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

PMID 24141787 2014 Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

PMID 28240985 2017 A PALB2-interacting domain in RNF168 couples homologous recombination to DNA break-induced chromatin ubiquitylation.

PMID 20871615 2010 Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 28158555 2017 Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 27595995 2016 PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

PMID 25575445 2015 Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

PMID 25225577 2014 Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.

PMID 21182766 2010 A PALB2 mutation associated with high risk of breast cancer.

PMID 25356972 2015 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

PMID 23471749 2013 The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.

PMID 25959805 2015 Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.

PMID 22310028 2012 Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region.

PMID 28279176 2017 PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 20852946 2010 PALB2: a novel inactivating mutation in a Italian breast cancer family.

PMID 25619955 2015 Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 23112754 2012 Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.

PMID 21932393 2012 Novel germline PALB2 truncating mutations in African American breast cancer patients.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 28454591 2017 Lost in translation: returning germline genetic results in genome-scale cancer research.

PMID 27099641 2016 PALB2: research reaching to clinical outcomes for women with breast cancer.

PMID 24061862 2014 Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 20582465 2011 PALB2 analysis in BRCA2-like families.

PMID 20122277 2010 A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.

PMID 23110154 2012 Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 28194609 2017 A high frequency of PALB2 mutations in Jamaican patients with breast cancer.

PMID 23824750 2014 Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.

PMID 27469594 2016 A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago.

PMID 28453507 2017 Genetic Cancer Risk Assessment for Breast Cancer in Latin America.

PMID 19609323 2009 Structural basis for recruitment of BRCA2 by PALB2.

PMID 28709830 2017 Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 23561644 2013 Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 27631815 2017 Frequency of germline PALB2 mutations among women with epithelial ovarian cancer.

PMID 25794774 2015 Prevalence of PALB2 mutations in the Creighton University Breast Cancer Family Registry.

PMID 26757417 2016 Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

PMID 28825143 2017 Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 25337758 2014 Breast-cancer risk in families with mutations in PALB2.

PMID 26534844 2016 Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

PMID 25666743 2015 Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.

PMID 27878467 2017 Outcomes of retesting BRCA negative patients using multigene panels.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

rs587776405 in PALB2;DCTN5 gene and Neoplastic Syndromes, Hereditary PMID 24556926 2014 PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.

PMID 25099575 2014 Breast-cancer risk in families with mutations in PALB2.

rs397509413 in PHF7;BAP1 gene and Neoplastic Syndromes, Hereditary PMID 23341325 2013 Hereditary uveal melanoma: a report of a germline mutation in BAP1.

rs45517412 in PKD1;TSC2 gene and Neoplastic Syndromes, Hereditary PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.

PMID 15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

rs1060503110 in PMS2 gene and Neoplastic Syndromes, Hereditary PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.

PMID 25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 25194673 2014 Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 28528518 2018 A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 28125078 2017 Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 21376568 2011 Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

PMID 28286799 2017 A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.

PMID 24055113 2013 Actionable, pathogenic incidental findings in 1,000 participants' exomes.

PMID 18273873 2008 Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

PMID 24027009 2013 Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 21204794 2011 Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

PMID 26318770 2015 Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

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PMID 20186688 2010 Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

PMID 16144131 2005 Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

PMID 15256438 2004 Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

PMID 16619239 2006 Long-range PCR facilitates the identification of PMS2-specific mutations.

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PMID 20531397 2010 The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

PMID 19283792 2009 Pediatric duodenal cancer and biallelic mismatch repair gene mutations.

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PMID 26391938 2015 Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.

PMID 23629955 2013 Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

PMID 25691505 2015 A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

PMID 11574484 2001 Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PMID 25512458 2015 Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

PMID 27742654 2017 Practical guidance for mismatch repair-deficiency testing in endometrial cancer.

PMID 26247049 2015 Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

PMID 26110232 2016 The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

PMID 25477341 2015 Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

PMID 20205264 2010 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

PMID 27589204 2016 Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.

PMID 25648859 2015 Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.

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PMID 28466842 2017 Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

PMID 24323032 2014 Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

PMID 18178629 2008 A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 16472587 2006 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

PMID 23612316 2013 Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.

PMID 26437257 2015 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

PMID 10763829 2000 Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.

PMID 9419979 1997 Drastic genetic instability of tumors and normal tissues in Turcot syndrome.

PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

PMID 20624957 2010 PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.

PMID 28454591 2017 Lost in translation: returning germline genetic results in genome-scale cancer research.

PMID 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

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PMID 16616355 2006 Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 22608206 2012 Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

PMID 18709565 2008 Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

PMID 26116798 2015 Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

PMID 28365877 2017 Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

PMID 22290698 2012 Classification of mismatch repair gene missense variants with PON-MMR.

PMID 28503822 2018 Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

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PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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PMID 27694994 2016 Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

PMID 22848017 2013 Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1.

PMID 19039682 2009 A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.

PMID 24790682 2014 The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.

PMID 24689082 2014 A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

PMID 23729388 2013 Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

PMID 27096365 2016 Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

PMID 25117502 2014 Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice.

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PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 21261604 2011 Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.

PMID 27001570 2016 Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

PMID 15887124 2005 Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

PMID 27037742 2016 Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.

PMID 27017610 2016 Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 17993636 2008 Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.

PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PMID 9488480 1998 A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.

PMID 26895986 2016 Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

PMID 7661930 1995 The molecular basis of Turcot's syndrome.

PMID 7632227 1995 Mismatch repair deficiency in phenotypically normal human cells.

PMID 19495563 2009 Anaplastic oligoastrocytoma in Turcot syndrome.

PMID 15845562 2005 Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.

PMID 16283678 2005 Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

PMID 10223463 1999 The hPMS2 exon 5 mutation and malignant glioma. Case report.

PMID 16284300 2005 PMS2 mutations in childhood cancer.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 15077197 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

PMID 21356188 2011 Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.

PMID 27273229 2017 Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.

PMID 22295133 2011 Lynch Syndrome Associated With PMS2 Mutation: Understanding Current Concepts.

PMID 17016615 2006 The mismatch repair gene hPMS2 is mutated in primary breast cancer.

PMID 28765196 2017 In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.

PMID 10199405 1999 Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair.

PMID 26249686 2015 Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome.

rs1554309086 in PMS2;AIMP2 gene and Neoplastic Syndromes, Hereditary PMID 27742654 2017 Practical guidance for mismatch repair-deficiency testing in endometrial cancer.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

PMID 23012243 2013 The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

rs398122386 in POLD1 gene and Neoplastic Syndromes, Hereditary PMID 26350127 2015 Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

PMID 26172944 2015 POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

PMID 23770608 2013 An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

PMID 26133394 2016 POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

PMID 28306219 2017 Characterization of a novel POLD1 missense founder mutation in a Spanish population.

PMID 24501277 2014 New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

PMID 16699561 2006 A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae.

rs483352909 in POLE gene and Neoplastic Syndromes, Hereditary PMID 8679562 1996 Crystal structures of an NH2-terminal fragment of T4 DNA polymerase and its complexes with single-stranded DNA and with divalent metal ions.

PMID 25529843 2015 Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.

PMID 16699561 2006 A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae.

PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PMID 24501277 2014 New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

PMID 25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

rs1060502273 in PTCH1 gene and Neoplastic Syndromes, Hereditary PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 24814739 2014 Manifestations of Gorlin-Goltz syndrome.

PMID 10200051 1998 Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online.

PMID 18502968 2008 PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

PMID 15712338 2005 Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

PMID 10890722 2000 PTCH gene mutations in odontogenic keratocysts.

PMID 19362041 2009 PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation?

PMID 9620294 1998 Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

PMID 20068110 2010 Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

PMID 21834049 2011 Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

rs863224650 in PTCH1;LOC100507346 gene and Neoplastic Syndromes, Hereditary PMID 16906569 2006 Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

rs1060500122 in PTEN gene and Neoplastic Syndromes, Hereditary PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 20712882 2010 Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

PMID 19968660 2010 Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.

PMID 23335809 2013 High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

PMID 11071384 2000 Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.

PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

PMID 9467011 1998 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

PMID 20223021 2006 Germline PTEN mutations are rare and highly penetrant.

PMID 21430697 2011 PTEN loss in the continuum of common cancers, rare syndromes and mouse models.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 20600018 2010 Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

PMID 10232405 1999 Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.

PMID 16014636 2005 Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.

PMID 26504226 2015 Discovery and functional characterization of a neomorphic PTEN mutation.

PMID 10920277 2000 Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

PMID 26432245 2015 A global reference for human genetic variation.

PMID 27082424 2016 Characterisation of the Phosphatidylinositol 3-Kinase Pathway in Non-Small Cell Lung Cancer Cells Isolated from Pleural Effusions.

PMID 27535533 2016 Analysis of protein-coding genetic variation in 60,706 humans.

PMID 10866302 2000 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.

PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.

PMID 25851949 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.

PMID 12938083 2003 PTEN: one gene, many syndromes.

PMID 24123798 2013 PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.

PMID 15121767 2004 Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.

PMID 12920084 2003 De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.

PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

PMID 25549896 2015 Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

PMID 23124040 2013 Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.

PMID 15211648 2004 Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome.

PMID 16952599 2006 Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.

PMID 9140396 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

PMID 25288137 2015 Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.

PMID 28286253 2017 Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

PMID 20685300 2010 Unique biochemical properties of the protein tyrosine phosphatase activity of PTEN-demonstration of different active site structural requirements for phosphopeptide and phospholipid phosphatase activities of PTEN.

PMID 17324556 2007 PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation.

PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

PMID 22381246 2012 Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.

PMID 23934601 2014 Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.

PMID 23764071 2013 Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

PMID 24345843 2014 Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.

PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

PMID 9915974 1999 Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.

PMID 25527629 2015 Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

PMID 26798346 2015 Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 21822720 2011 Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?

PMID 22320991 2011 Genetic changes in the PTEN gene and their association with breast cancer in Pakistan.

PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

PMID 22327138 2012 Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

PMID 20300775 2010 PTEN mutation spectrum in breast cancers and breast hyperplasia.

PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.

PMID 19457929 2009 Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

PMID 16773562 2006 Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

PMID 15120218 2004 Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature.

PMID 16752378 2006 A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.

PMID 27626691 2016 TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 19719509 2010 Lhermitte-Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis.

PMID 18080326 2008 Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.

PMID 21291452 2012 PTEN in colorectal cancer: a report on two Cowden syndrome patients.

PMID 11332402 2001 The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.

PMID 10807691 2000 Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers.

PMID 9288766 1997 Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.

PMID 12415190 2002 Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease.

PMID 24102544 2014 PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.

PMID 15372512 2004 Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

PMID 10866658 2000 Phosphorylation of the PTEN tail regulates protein stability and function.

PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.

PMID 24656806 2014 PTEN function: the long and the short of it.

PMID 24561254 2014 PTEN C-terminal deletion causes genomic instability and tumor development.

PMID 19461582 2009 Structural basis for ADP-mediated transcriptional regulation by P1 and P7 ParA.

PMID 15694342 2005 A tyrosyl-tRNA synthetase adapted to function in group I intron splicing by acquiring a new RNA binding surface.

PMID 24704020 2014 Prognostic significance of biallelic loss of PTEN in clear cell renal cell carcinoma.

PMID 22891331 2012 Resistance to EGF receptor inhibitors in glioblastoma mediated by phosphorylation of the PTEN tumor suppressor at tyrosine 240.

PMID 11886535 2001 Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25246819 2014 Cowden syndrome presenting as breast cancer: imaging and clinical features.

PMID 19622968 2009 Endometrial cancer in an adolescent: a possible manifestation of Cowden syndrome.

PMID 25722288 2015 PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

PMID 20926450 2011 Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

PMID 21103832 2011 A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies.

PMID 26795104 2018 A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report.

PMID 15659546 2005 Cellular transformation by the MSP58 oncogene is inhibited by its physical interaction with the PTEN tumor suppressor.

PMID 11156408 2000 Stabilization and productive positioning roles of the C2 domain of PTEN tumor suppressor.

PMID 11875759 2002 Protean PTEN: form and function.

PMID 17218261 2007 Ubiquitination regulates PTEN nuclear import and tumor suppression.

PMID 17218260 2007 NEDD4-1 is a proto-oncogenic ubiquitin ligase for PTEN.

PMID 18794879 2008 PTEN: a new guardian of the genome.

PMID 9797362 1998 Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease.

PMID 18716620 2008 The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network.

PMID 28526761 2017 A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

PMID 10923032 2000 Mutations of the human PTEN gene.

PMID 19604110 2009 Analysis of PTEN gene mutations in a Turkish patient with Cowden syndrome.

PMID 23161105 2013 A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 24744697 2014 Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.

PMID 10076877 1999 Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).

PMID 11234884 2001 Mutations of PTEN/MMAC1 in primary prostate cancers from Chinese patients.

PMID 22473468 2012 The functions and regulation of the PTEN tumour suppressor.

PMID 11849740 2002 Assessment of the quality and frequency of mutations occurrence in PTEN gene in endometrial carcinomas and hyperplasias.

PMID 16894538 2006 Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.

PMID 24498881 2014 A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

PMID 26076150 2015 Premalignant alterations in breast and endometrium associated with a PTEN mutation in a woman with Cowden syndrome: implications for preventive care.

PMID 14675182 2003 A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease.

PMID 17941496 2007 Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

PMID 10848731 2000 A novel PTEN mutation in a Japanese patient with Cowden disease.

PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

PMID 22520842 2012 "Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""."

PMID 21343951 2011 Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

PMID 22281088 2012 Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.

PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

PMID 10772390 2000 Germline PTEN mutations in three families with Cowden syndrome.

PMID 9425889 1998 PTEN germ-line mutations in juvenile polyposis coli.

PMID 18757403 2008 Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 17043057 2006 PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 11918710 2002 PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome.

PMID 20962022 2011 Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome.

PMID 22469695 2012 An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

PMID 23117110 2013 Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome.

PMID 18558293 2008 A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.

PMID 28523199 2017 De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.

PMID 27514801 2016 Tailor-Made Protein Tyrosine Phosphatases: In Vitro Site-Directed Mutagenesis of PTEN and PTPRZ-B.

PMID 29296277 2017 Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

PMID 26246517 2015 Cowden's syndrome with immunodeficiency.

PMID 16704655 2006 Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.

PMID 15951562 2005 Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases.

PMID 21266528 2011 A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas.

PMID 23085752 2013 Disruption of epithelial architecture caused by loss of PTEN or by oncogenic mutant p110α/PIK3CA but not by HER2 or mutant AKT1.

rs1064796078 in PTEN;KLLN gene and Neoplastic Syndromes, Hereditary PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 20223021 2006 Germline PTEN mutations are rare and highly penetrant.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

rs104895046 in RAD50 gene and Neoplastic Syndromes, Hereditary PMID 20805886 2010 Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

PMID 16385572 2006 Evaluation of RAD50 in familial breast cancer predisposition.

PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

PMID 24894818 2014 Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 26787654 2016 Multigene testing of moderate-risk genes: be mindful of the missense.

PMID 18281469 2008 Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 19190165 2009 Rad50 c.687delT does not contribute significantly to familial breast cancer in a French population.

PMID 14684699 2003 Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.

PMID 24093751 2013 Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia.

PMID 16474176 2006 RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.

PMID 19092773 2009 Breast cancer susceptibility: current knowledge and implications for genetic counselling.

PMID 21811815 2012 RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer.

PMID 20571869 2010 RAD50 gene mutations are not likely a risk factor for breast cancer in Poland.

PMID 19904603 2010 Some common mutations of RAD50 and NBS1 in western populations do not contribute significantly to Chinese non-BRCA1/2 hereditary breast cancer.

PMID 27913932 2017 Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

PMID 25151137 2015 Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.

rs1339714611 in RAD50;IL5 gene and Neoplastic Syndromes, Hereditary PMID 16385572 2006 Evaluation of RAD50 in familial breast cancer predisposition.

PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

rs151131414 in RAD50;TH2LCRR gene and Neoplastic Syndromes, Hereditary PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

PMID 16385572 2006 Evaluation of RAD50 in familial breast cancer predisposition.

rs1413872299 in RAD51C gene and Neoplastic Syndromes, Hereditary PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 25470109 2015 Genetic testing for RAD51C mutations: in the clinic and community.

PMID 22725699 2013 Germline RAD51C mutations in ovarian cancer susceptibility.

PMID 23117857 2012 Germline mutations in RAD51C in Jewish high cancer risk families.

PMID 25086635 2014 RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 22538716 2012 Germline RAD51C mutations confer susceptibility to ovarian cancer.

PMID 26740214 2016 Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.

PMID 28588062 2017 Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.

PMID 22167183 2012 Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.

PMID 25154786 2015 Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.

PMID 20400963 2010 Mutation of the RAD51C gene in a Fanconi anemia-like disorder.

PMID 28829762 2017 Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

PMID 26678223 2016 Trans-dichlorooxovandium (IV) complex as a novel photoinducible DNA interstrand crosslinker for cancer therapy.

PMID 22451500 2012 Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

PMID 26354865 2015 Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart.

PMID 20400964 2010 Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

PMID 24993905 2014 Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.

PMID 24141787 2014 Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

PMID 25292178 2015 Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.

PMID 23438602 2013 ATM- and ATR-mediated phosphorylation of XRCC3 regulates DNA double-strand break-induced checkpoint activation and repair.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

PMID 21990120 2012 Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 24315737 2014 RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).

PMID 24139550 2013 Germline mutation in the RAD51B gene confers predisposition to breast cancer.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21537932 2011 A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.

PMID 24800917 2014 Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.

PMID 26848151 2016 Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.

PMID 21616938 2011 RAD51C is a susceptibility gene for ovarian cancer.

PMID 27622768 2017 The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.

PMID 28024868 2017 Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

rs730881941 in RAD51C;LOC105371843 gene and Neoplastic Syndromes, Hereditary PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 22725699 2013 Germline RAD51C mutations in ovarian cancer susceptibility.

PMID 25470109 2015 Genetic testing for RAD51C mutations: in the clinic and community.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

rs587782528 in RAD51C;TEX14 gene and Neoplastic Syndromes, Hereditary PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 21616938 2011 RAD51C is a susceptibility gene for ovarian cancer.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 25470109 2015 Genetic testing for RAD51C mutations: in the clinic and community.

PMID 23176254 2012 Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients.

PMID 20400964 2010 Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

PMID 24993905 2014 Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.

rs1057521922 in RAD51D;RAD51L3-RFFL gene and Neoplastic Syndromes, Hereditary PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 21822267 2011 Germline mutations in RAD51D confer susceptibility to ovarian cancer.

PMID 29020732 2018 Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.

PMID 26046366 2015 Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

PMID 22275364 2012 RAD51 protein ATP cap regulates nucleoprotein filament stability.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 24139550 2013 Germline mutation in the RAD51B gene confers predisposition to breast cancer.

PMID 28646019 2017 Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

PMID 16717288 2006 Disparate requirements for the Walker A and B ATPase motifs of human RAD51D in homologous recombination.

PMID 22986143 2012 Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 28423363 2017 Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

PMID 26057125 2015 Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.

PMID 24130102 2014 About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

PMID 25445424 2015 Breast cancer in a RAD51D mutation carrier: case report and review of the literature.

PMID 27083178 2016 Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 16236763 2005 The ATPase motif in RAD51D is required for resistance to DNA interstrand crosslinking agents and interaction with RAD51C.

PMID 6329717 1982 Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold.

PMID 23372765 2013 Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer.

PMID 26296696 2015 Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

rs1555567649 in RAD51L3-RFFL;RAD51D gene and Neoplastic Syndromes, Hereditary PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 28821472 2018 Surgical Findings and Outcomes in Premenopausal Breast Cancer Patients Undergoing Oophorectomy: A Multicenter Review From the Society of Gynecologic Surgeons Fellows Pelvic Research Network.

PMID 22415235 2012 Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.

PMID 23372765 2013 Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer.

PMID 21822267 2011 Germline mutations in RAD51D confer susceptibility to ovarian cancer.

PMID 25445424 2015 Breast cancer in a RAD51D mutation carrier: case report and review of the literature.

PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 27273131 2016 Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 24130102 2014 About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 22275364 2012 RAD51 protein ATP cap regulates nucleoprotein filament stability.

PMID 21111057 2011 Structural and functional characterization of the N-terminal domain of human Rad51D.

rs1131690843 in RB1 gene and Neoplastic Syndromes, Hereditary PMID 15884040 2005 Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

PMID 25928201 2015 Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

PMID 8605116 1995 Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.

PMID 7881418 1994 Spectrum of small length germline mutations in the RB1 gene.

PMID 18449911 2008 Evaluation of in silico splice tools for decision-making in molecular diagnosis.

PMID 25754945 2015 Genetic screening in patients with Retinoblastoma in Israel.

PMID 8346255 1993 Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.

PMID 8651278 1996 The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

PMID 7704558 1994 Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.

PMID 21763628 2011 RB1 gene mutations in Iranian patients with retinoblastoma: report of four novel mutations.

PMID 23981928 2013 Rapid detection of RB1 recurrent mutations in retinoblastoma by ARMS-PCR.

PMID 17960112 2007 Ten novel RB1 gene mutations in patients with retinoblastoma.

PMID 20447117 2010 Role of genetic testing in retinoblastoma management at a tertiary referral centre.

PMID 14722923 2004 Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

PMID 23532519 2013 Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.

PMID 19280657 2009 Detection of mosaic RB1 mutations in families with retinoblastoma.

PMID 22084214 2011 Outcomes of integrating genetics in management of patients with retinoblastoma.

PMID 15605413 2005 Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

PMID 19390654 2009 Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

PMID 12502741 2002 Structural basis for the recognition of the E2F transactivation domain by the retinoblastoma tumor suppressor.

PMID 10671068 1998 Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.

PMID 22963398 2013 Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.

PMID 24225018 2014 Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

PMID 24791139 2014 Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

PMID 18181215 2008 Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

PMID 12402348 2002 Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

PMID 20090211 2009 A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma.

PMID 27021801 2016 Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.

PMID 15166261 2004 "Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by ""exon by exon"" PCR mediated SSCP analysis."

PMID 2594029 1989 Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 22328814 2012 Phenotypic variability of retinocytomas: preregression and postregression growth patterns.

PMID 17096365 2007 Genotype-phenotype correlations in hereditary familial retinoblastoma.

PMID 20041224 2009 The human retinoblastoma gene is imprinted.

PMID 1352883 1992 Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

PMID 26925970 2016 A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.

PMID 24688104 2014 RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.

PMID 10966849 2000 Retinoblastoma: the disease, gene and protein provide critical leads to understand cancer.

PMID 9632788 1998 Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 9671401 1998 A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype.

PMID 16269091 2005 RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

PMID 16343894 2006 Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.

PMID 28575107 2017 Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

PMID 7795591 1995 Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.

PMID 18000883 2007 Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.

PMID 12016586 2002 A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.

PMID 7981694 1994 Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene.

PMID 12955724 2003 Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.

PMID 26084579 2015 A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.

PMID 25424699 2015 Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma.

PMID 22205104 2012 RB1 mutations and second primary malignancies after hereditary retinoblastoma.

PMID 14769601 2004 Rapid identification of germline mutations in retinoblastoma by protein truncation testing.

rs1060503079 in RB1;LOC112268118 gene and Neoplastic Syndromes, Hereditary PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

PMID 15605413 2005 Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

PMID 16972022 2006 New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.

PMID 11317357 2001 Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

PMID 18449911 2008 Evaluation of in silico splice tools for decision-making in molecular diagnosis.

PMID 24688104 2014 RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.

PMID 24225018 2014 Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

PMID 15884040 2005 Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

PMID 26084579 2015 A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.

PMID 24791139 2014 Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

PMID 25712084 2015 Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

PMID 28803391 2018 Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.

PMID 8651278 1996 The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

PMID 22219649 2011 Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

PMID 23981928 2013 Rapid detection of RB1 recurrent mutations in retinoblastoma by ARMS-PCR.

PMID 17096365 2007 Genotype-phenotype correlations in hereditary familial retinoblastoma.

PMID 19280657 2009 Detection of mosaic RB1 mutations in families with retinoblastoma.

PMID 15166261 2004 "Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by ""exon by exon"" PCR mediated SSCP analysis."

PMID 16463005 2006 Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

PMID 22963398 2013 Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.

PMID 9400934 1997 The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.

PMID 28575107 2017 Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

PMID 27582626 2016 Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

PMID 17960112 2007 Ten novel RB1 gene mutations in patients with retinoblastoma.

PMID 26580448 2015 Germline Mutations in Predisposition Genes in Pediatric Cancer.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 22328814 2012 Phenotypic variability of retinocytomas: preregression and postregression growth patterns.

PMID 2594029 1989 Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.

PMID 25758528 2015 RB loss in resistant EGFR mutant lung adenocarcinomas that transform to small-cell lung cancer.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

rs387906521 in RB1;RB1-DT gene and Neoplastic Syndromes, Hereditary PMID 1673287 1991 Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.

PMID 10023315 1998 Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma.

PMID 24225018 2014 Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

PMID 2748600 1989 Structure of the human retinoblastoma gene.

PMID 20447117 2010 Role of genetic testing in retinoblastoma management at a tertiary referral centre.

PMID 1881452 1991 Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.

rs143795581 in RET gene and Neoplastic Syndromes, Hereditary PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 21690267 2011 Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.

PMID 15858153 2005 Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.

PMID 27673361 2016 Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.

PMID 21479187 2011 Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

PMID 20103606 2010 Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.

PMID 25319874 2014 A newly identified missense mutation in RET codon 666 is associated with the development of medullary thyroid carcinoma.

PMID 21678021 2011 Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

PMID 26687385 2016 Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

PMID 25810047 2015 Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

PMID 11395220 2001 Unusual clinical presentation of a patient with multiple endocrine neoplasia type 2A.

PMID 11688458 2001 Sporadic versus familial medullary thyroid microcarcinoma: a histopathologic study of 50 consecutive patients.

PMID 23407919 2013 Mutation screening in a Norwegian cohort with pheochromocytoma.

PMID 27809725 2017 Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

PMID 28099363 2017 Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.

PMID 8557249 1996 Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.

PMID 10049754 1999 Mechanism of Ret activation by a mutation at aspartic acid 631 identified in sporadic pheochromocytoma.

PMID 11149622 2000 A patient with MEN 2 and multiple mutations of RET in the germline.

PMID 7608256 1995 The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.

PMID 16839264 2006 A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.

PMID 18062802 2008 Familial prevalence and age of RET germline mutations: implications for screening.

PMID 22274720 2012 Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma.

PMID 19469690 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association.

PMID 12193298 2002 Papillary thyroid carcinoma in patients with RET proto-oncogene germline mutation.

PMID 23756355 2013 The clinical spectrum of RET proto-oncogene mutations in codon 790.

PMID 9506724 1998 A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.

PMID 29656518 2018 Genotype-specific progression of hereditary medullary thyroid cancer.

PMID 21810974 2011 In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.

PMID 23210566 2012 RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China.

PMID 22965292 2012 Failure of pentagastrin-stimulated calcitonin testing in early manifestation of familial medullary thyroid cancer.

PMID 21688339 2012 Role of prophylactic thyroidectomy in RET 790 familial medullary thyroid carcinoma.

PMID 22403753 2012 Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene.

PMID 16865646 2006 Hereditary medullary thyroid cancer in Slovenia--genotype-phenotype correlations.

PMID 17895320 2007 RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.

PMID 12490841 2002 RET proto-oncogene mutations affecting codon 790/791: A mild form of multiple endocrine neoplasia type 2A syndrome?

PMID 12409662 2002 Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations.

PMID 18063059 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

PMID 25515555 2015 RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation.

PMID 24561444 2014 RET revisited: expanding the oncogenic portfolio.

PMID 24784869 2014 Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies.

PMID 28469506 2017 Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.

PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 23617071 2013 Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A.

PMID 7824936 1995 Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.

PMID 7907913 1994 Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.

PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

PMID 9067749 1997 Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.

PMID 7881414 1994 Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 12686527 2003 Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship.

PMID 21765987 2011 Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.

PMID 7849720 1994 RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.

PMID 7874109 1994 RET proto-oncogene mutations in French MEN 2A and FMTC families.

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PMID 20119574 2010 A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation.

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PMID 27994876 2016 Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A.

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PMID 18206480 2008 RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.

PMID 26247112 2015 A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.

PMID 21711375 2011 Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?

PMID 10445857 1999 Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.

PMID 24361808 2014 Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.

PMID 23468374 2013 Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis.

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PMID 9452077 1998 A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.

PMID 9242375 1997 Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

PMID 7784092 1995 RET mutations in exons 13 and 14 of FMTC patients.

PMID 27099842 2016 How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

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PMID 9839497 1998 Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.

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PMID 9068588 1997 Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma.

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PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26490314 2016 In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.

PMID 28819017 2017 Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.

PMID 23730622 2013 Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 27895137 2017 Successful response to pegylated interferon alpha in a patient with recurrent paraganglioma.

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PMID 23174939 2013 SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.

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PMID 21752896 2011 SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.

PMID 22955521 2013 Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.

PMID 21505157 2011 SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.

PMID 28546994 2017 SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

PMID 29177515 2018 Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.

PMID 28500238 2017 SDHA mutated paragangliomas may be at high risk of metastasis.

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 22904323 2012 Structural basis for malfunction in complex II.

PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 23043141 2012 Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit.

PMID 19628817 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

PMID 23154507 2013 Sequence diversity and conservation in factors influencing succinate dehydrogenase flavinylation.

PMID 23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

PMID 23109135 2013 Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 23060355 2013 Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.

PMID 24886695 2014 Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

PMID 23797725 2013 Identification of succinate dehydrogenase-deficient bladder paragangliomas.

PMID 28384794 2017 Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

PMID 23750034 2013 Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 11423010 2001 Survey of human mitochondrial diseases using new genomic/proteomic tools.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 7550341 1995 Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.

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PMID 15795514 2005 Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

PMID 27683074 2017 SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

PMID 20489732 2010 Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.

PMID 16798039 2006 Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

PMID 21858060 2011 Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.

rs113560320 in SDHAF2 gene and Neoplastic Syndromes, Hereditary PMID 20071235 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

PMID 19628817 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 28099933 2017 Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.

PMID 24414418 2014 Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

rs1060503757 in SDHB gene and Neoplastic Syndromes, Hereditary PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 17987308 2008 Cervical paragangliomas: is SDH genetic analysis systematically required?

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 17848412 2007 High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations.

PMID 12618761 2003 Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 24096523 2014 Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

PMID 23407919 2013 Mutation screening in a Norwegian cohort with pheochromocytoma.

PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

PMID 16912137 2006 High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

PMID 26273102 2015 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

PMID 20208144 2010 Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

PMID 22835832 2012 Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

PMID 16103922 2005 A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas.

PMID 19393419 2009 Chromosomal changes in sporadic and familial head and neck paragangliomas.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 17652212 2007 Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

PMID 14500403 2003 Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

PMID 16405730 2006 Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 23072324 2013 Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 26960314 2016 Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

PMID 24659481 2014 Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma.

PMID 19522823 2009 SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.

PMID 28503760 2018 The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

PMID 20418362 2010 Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

PMID 28490599 2017 The phenotype of SDHB germline mutation carriers: a nationwide study.

PMID 25683602 2015 Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.

PMID 19927285 2010 Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma.

PMID 28374168 2017 SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

PMID 20213850 2010 Are these compound heterozygous mutations of SDHB really mutations?

PMID 20583550 2010 Early presentation of familial paraganglioma with SDHB mutation in a 13 year old child and its mother.

PMID 20503330 2010 Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

PMID 19576851 2009 An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

PMID 18840642 2008 Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.

PMID 19189136 2009 Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?

PMID 25371406 2015 Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 18382370 2008 Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

PMID 26302408 2015 Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.

PMID 17200167 2007 Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 22904323 2012 Structural basis for malfunction in complex II.

PMID 23640968 2013 Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing.

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PMID 19261679 2009 Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor.

PMID 21173220 2011 Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

PMID 20119652 2010 Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.

PMID 17143317 2006 A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.

PMID 27634942 2016 Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase mutations.

PMID 19184535 2009 SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.

PMID 26173966 2016 Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

PMID 29386252 2018 Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

PMID 21934479 2011 Renal tumors associated with germline SDHB mutation show distinctive morphology.

PMID 26283294 2016 Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 20540712 2010 Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.

PMID 19411806 2009 Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 17102082 2006 Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 17634472 2007 Somatic SDHB mutation in an extraadrenal pheochromocytoma.

PMID 14685938 2004 Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

PMID 19075037 2009 Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

PMID 23934599 2014 Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families.

PMID 20592014 2010 Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma.

PMID 24509376 2014 SDHB gene mutation in a carotid body paraganglioma: case report and review of the paraganglioma syndromes.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 20614293 2008 Hereditary paraganglioma of the nasopharynx.

PMID 25791839 2015 Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

PMID 27604842 2017 Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

PMID 24623741 2014 Overexpression of miR-210 is associated with SDH-related pheochromocytomas, paragangliomas, and gastrointestinal stromal tumours.

PMID 27171833 2016 Attention Deficit Hyperactivity Disorder in Pediatric Patients with Pheochromocytoma and Paraganglioma.

PMID 25972245 2015 Structural and functional consequences of succinate dehydrogenase subunit B mutations.

PMID 11404820 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

PMID 27573198 2017 Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers.

PMID 28324028 2017 A Duodenal SDH-Deficient Gastrointestinal Stromal Tumor in a Patient With a Germline SDHB Mutation.

PMID 12364472 2002 Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

PMID 16982587 2007 Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG.

PMID 25025441 2014 Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.

PMID 24276837 2013 Malignant paraganglioma presenting with hemorrhagic stroke in a child.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 18551016 2008 High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

PMID 23902947 2013 Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway.

PMID 25736212 2015 Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

PMID 15235042 2004 The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

PMID 25047027 2014 Phenotype of SDHB mutation carriers in the Netherlands.

PMID 25873086 2015 Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma.

PMID 25215250 2014 Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

PMID 19415531 2009 R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma.

PMID 12362046 2002 SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.

PMID 21909610 2011 [The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].

PMID 23797725 2013 Identification of succinate dehydrogenase-deficient bladder paragangliomas.

PMID 18728283 2008 Germline SDHB mutations and familial renal cell carcinoma.

PMID 17487275 2007 A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemia.

PMID 18419787 2008 Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

PMID 19596260 2009 Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas.

PMID 24395865 2014 Renal carcinoma associated with succinate dehydrogenase B mutation: a new and unique subtype of renal carcinoma.

PMID 26719882 2016 SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

PMID 27700540 2016 A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

PMID 23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

PMID 18362451 2008 R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis.

PMID 17308434 2007 Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.

PMID 19763184 2009 The Warburg effect is genetically determined in inherited pheochromocytomas.

PMID 21820839 2012 Contiguous bilateral head and neck paragangliomas in a carrier of the SDHB germline mutation.

PMID 15987702 2005 Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

PMID 26642834 2016 Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

PMID 25298897 2014 SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes.

PMID 19215943 2009 Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

PMID 25130709 2014 Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report.

PMID 16304664 2006 Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations.

PMID 27785149 2016 Mediastinal paragangliomas related to SDHx gene mutations.

PMID 17376234 2007 Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA.

PMID 17102086 2006 Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 24781345 2014 Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.

PMID 21172883 2011 Bilateral adrenal medullary hyperplasia associated with an SDHB mutation.

PMID 19694205 2009 Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation.

PMID 17943698 2007 Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report.

PMID 22492777 2012 Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations.

PMID 25394176 2015 Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

rs1131691062 in SDHC gene and Neoplastic Syndromes, Hereditary PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 24758179 2014 The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 22868853 2012 Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation.

PMID 21106325 2011 Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.

PMID 24781345 2014 Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.

PMID 28412079 2017 Polymyalgia rheumatica and vagal paraganglioma.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 12658451 2003 Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.

PMID 16249420 2005 Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

PMID 25394176 2015 Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 24102379 2014 Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

PMID 23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

PMID 24423348 2014 Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

PMID 17898811 2007 Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

PMID 27700540 2016 A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

PMID 26492543 2016 AN AGGRESSIVE TEMPORAL BONE SDHC PARAGANGLIOMA ASSOCIATED WITH INCREASED HIF-2α SIGNALING.

PMID 28819017 2017 Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.

PMID 24096523 2014 Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

PMID 23162105 2013 Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators.

PMID 24150194 2013 Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma.

PMID 19332149 2009 Mutations in the heme b-binding residue of SDHC inhibit assembly of respiratory chain complex II in mammalian cells.

PMID 29386252 2018 Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

PMID 24625421 2014 Succinate dehydrogenase deficiency is rare in pituitary adenomas.

PMID 25025441 2014 Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26173966 2016 Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

PMID 24886695 2014 Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

rs104894302 in SDHD gene and Neoplastic Syndromes, Hereditary PMID 22025150 2011 Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 16080530 2005 Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 18692411 2008 Role of the genetic study in the management of carotid body tumor in paraganglioma syndrome.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 26273102 2015 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

PMID 17308434 2007 Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.

PMID 19223516 2009 Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.

PMID 18463041 2008 Multiple catecholamine-secreting paragangliomas: diagnosis after hemorrhagic stroke in a young woman.

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 16061558 2005 Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 17848412 2007 High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations.

PMID 20208144 2010 Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 17973943 2008 Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

PMID 24859990 2014 Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

PMID 18551016 2008 High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

PMID 19576851 2009 An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 22170724 2012 Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

PMID 25300370 2014 Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.

PMID 25695889 2015 Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

PMID 21937622 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 22290790 2013 Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations.

PMID 24758185 2014 Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report.

PMID 24102379 2014 Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

PMID 25014000 2014 Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

PMID 15479192 2004 SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 19584903 2010 The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.

PMID 9683583 1998 Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

rs587782210 in SDHD;TIMM8B gene and Neoplastic Syndromes, Hereditary PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

rs1060500733 in SMAD4 gene and Neoplastic Syndromes, Hereditary PMID 24525918 2014 Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.

PMID 20685751 2010 SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia.

PMID 20101697 2010 Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

PMID 12417513 2002 Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

PMID 22316667 2012 Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.

PMID 18178612 2008 Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.

PMID 16436638 2006 Mutation screening in juvenile polyposis syndrome.

PMID 10441006 1999 SMAD genes in juvenile polyposis.

PMID 9582123 1998 Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

PMID 10797267 2000 Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.

PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

PMID 11274206 2001 Formation of a stable heterodimer between Smad2 and Smad4.

PMID 9811934 1998 Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

PMID 15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

PMID 15031030 2004 A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

PMID 23239472 2013 Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.

PMID 16152648 2005 Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.

PMID 21465659 2011 SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.

PMID 10479724 1999 Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients.

PMID 10764709 2000 Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.

PMID 25931195 2015 Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.

PMID 24580733 2014 Myhre syndrome.

PMID 24715504 2014 Novel SMAD4 mutation causing Myhre syndrome.

PMID 24841914 2014 Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome.

PMID 24424121 2014 Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

PMID 24398790 2014 SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

PMID 26900293 2016 Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

PMID 26572829 2016 JP-HHT phenotype in Danish patients with SMAD4 mutations.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 27375208 2016 A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

PMID 22748914 2012 A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity?

PMID 23139211 2013 SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

rs1555771571 in SMARCA4 gene and Neoplastic Syndromes, Hereditary PMID 21566516 2011 Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoidrhabdoid tumor showing retained SMARCB1 (INI1) expression.

PMID 24658002 2014 Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

rs1555875915 in SMARCB1 gene and Neoplastic Syndromes, Hereditary PMID 19902524 2010 Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

rs1131690916 in STK11 gene and Neoplastic Syndromes, Hereditary PMID 23415580 2013 Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

PMID 19892943 2009 Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation.

PMID 11389158 2001 Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

PMID 16707622 2006 Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.

PMID 9908348 1992 Morphology-dependent resonances in a large dielectric sphere: An asymptotic calculation using local coordinates.

PMID 23056405 2012 Predicting the functional effect of amino acid substitutions and indels.

PMID 24652667 2014 STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.

PMID 19908348 2009 Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.

PMID 18687677 2008 SIRT1 modulation of the acetylation status, cytosolic localization, and activity of LKB1. Possible role in AMP-activated protein kinase activation.

PMID 10408777 1999 Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.

PMID 16287113 2005 High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

PMID 17026623 2006 An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.

PMID 9850045 1998 Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome.

PMID 15188174 2004 Relative frequency and morphology of cancers in STK11 mutation carriers.

PMID 21118512 2010 High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

PMID 12372054 2002 Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.

PMID 26607058 2015 Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.

PMID 15608654 2005 An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.

PMID 17404884 2007 Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

PMID 12112668 2002 Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

PMID 15863673 2005 STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

PMID 23718779 2013 High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

PMID 12865922 2003 Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

PMID 16582077 2006 Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

PMID 9428765 1998 A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

PMID 9809980 1998 STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.

PMID 16110486 2005 Mutations in the human LKB1/STK11 gene.

PMID 24604241 2014 Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome.

PMID 12552571 2003 Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.

PMID 15121768 2004 Genotype-phenotype correlations in Peutz-Jeghers syndrome.

PMID 17924967 2007 Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.

PMID 9760200 1998 Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome.

PMID 9887330 1999 Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

PMID 26225618 2015 Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome.

PMID 19952941 2010 An unusual case of sex cord tumor with annular tubules with malignant transformation in a patient with Peutz-Jeghers syndrome.

PMID 23672593 2013 Insights into the phosphoryl transfer catalyzed by cAMP-dependent protein kinase: an X-ray crystallographic study of complexes with various metals and peptide substrate SP20.

PMID 10623683 2000 Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome.

PMID 16407375 2006 Cancer risks in LKB1 germline mutation carriers.

rs1060501933 in TH2LCRR;RAD50 gene and Neoplastic Syndromes, Hereditary PMID 10892749 2000 Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily.

PMID 24894818 2014 Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

PMID 25828805 2015 Human RAD50 makes a functional DNA-binding complex.

PMID 28961279 2017 The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

PMID 21035407 2010 Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 21441914 2011 ABC ATPase signature helices in Rad50 link nucleotide state to Mre11 interface for DNA repair.

PMID 17386254 2007 Learning our ABCs: Rad50 directs MRN repair functions via adenylate kinase activity from the conserved ATP binding cassette.

PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

PMID 16385572 2006 Evaluation of RAD50 in familial breast cancer predisposition.

rs104894303 in TIMM8B;SDHD gene and Neoplastic Syndromes, Hereditary PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 12111639 2002 Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 18826997 2008 Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

PMID 27785149 2016 Mediastinal paragangliomas related to SDHx gene mutations.

PMID 25791839 2015 Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

PMID 19072999 2009 Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 11323050 2001 Germline SDHD mutation in familial phaeochromocytoma.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 25741136 2015 Succinate dehydrogenase-deficient gastrointestinal stromal tumors.

PMID 20418362 2010 Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

PMID 19075037 2009 Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

PMID 17804857 2007 Familial gastrointestinal stromal tumors and germ-line mutations.

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

rs1215337884 in TMEM127 gene and Neoplastic Syndromes, Hereditary PMID 26960314 2016 Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

PMID 20154675 2010 Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

rs121908814 in TMEM127;CIAO1 gene and Neoplastic Syndromes, Hereditary PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

PMID 22541004 2012 Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.

rs1553136984 in TOE1;MUTYH gene and Neoplastic Syndromes, Hereditary PMID 19725997 2007 Base excision repair and the role of MUTYH.

PMID 16408224 2006 MUTYH and the mismatch repair system: partners in crime?

rs1019340046 in TP53 gene and Neoplastic Syndromes, Hereditary PMID 8633021 1996 Dominant-negative p53 mutations selected in yeast hit cancer hot spots.

PMID 16861262 2007 Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.

PMID 12826609 2003 Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

PMID 19652052 2009 2009 version of the Chompret criteria for Li Fraumeni syndrome.

PMID 23484829 2013 Increased oxidative metabolism in the Li-Fraumeni syndrome.

PMID 8639798 1996 The p53 gene in pediatric therapy-related leukemia and myelodysplasia.

PMID 20593220 2011 MGMT promoter hypermethylation is a frequent, early, and consistent event in astrocytoma progression, and not correlated with TP53 mutation.

PMID 18555592 2008 Presence of dominant negative mutation of TP53 is a risk of early recurrence in oral cancer.

PMID 24744791 2014 Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients.

PMID 27458004 2016 Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes.

PMID 21343334 2011 Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

PMID 27730344 2017 Expression of circulating miRNAs associated with lymphocyte differentiation and activation in CLL-another piece in the puzzle.

PMID 9472631 1998 Effects of p53 mutants derived from lung carcinomas on the p53-responsive element (p53RE) of the MDM2 gene.

PMID 27149858 2016 Lenalidomide normalizes tumor vessels in colorectal cancer improving chemotherapy activity.

PMID 7732013 1995 A simple p53 functional assay for screening cell lines, blood, and tumors.

PMID 10589545 1999 Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française.

PMID 17606709 2007 Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

PMID 15925506 2005 Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

PMID 11793474 2002 Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein.

PMID 12406399 2002 [Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].

PMID 26818906 2016 Genetic and functional analysis of a Li Fraumeni syndrome family in China.

PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

PMID 25925845 2015 Germline TP53 mutational spectrum in French Canadians with breast cancer.

PMID 11896595 2002 Tumour p53 mutations exhibit promoter selective dominance over wild type p53.

PMID 26628864 2015 Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma.

PMID 20407015 2010 Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.

PMID 11920959 2002 Complex functions of mutant p53 alleles from human prostate cancer.

PMID 20522432 2010 TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

PMID 9546439 1998 Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast.

PMID 9290701 1997 Screening the p53 status of human cell lines using a yeast functional assay.

PMID 10761705 2000 p53 status in multiple human urothelial cancers: assessment for clonality by the yeast p53 functional assay in combination with p53 immunohistochemistry.

PMID 20118236 2010 Wild-type and Hupki (human p53 knock-in) murine embryonic fibroblasts: p53/ARF pathway disruption in spontaneous escape from senescence.

PMID 11429705 2001 p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements.

PMID 10753186 2000 High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis.

PMID 10366100 1999 Dominant-negative p53 mutations in rheumatoid arthritis.

PMID 22425896 2012 Non-nodal type of mantle cell lymphoma is a specific biological and clinical subgroup of the disease.

PMID 17724467 2008 Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast.

PMID 15381368 2004 Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin.

PMID 11313981 2001 p53 mutants exhibiting enhanced transcriptional activation and altered promoter selectivity are revealed using a sensitive, yeast-based functional assay.

PMID 16508005 2006 The biological impact of the human master regulator p53 can be altered by mutations that change the spectrum and expression of its target genes.

PMID 12917626 2003 Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.

PMID 19001415 2009 Monocytic leukemia zinc finger (MOZ) interacts with p53 to induce p21 expression and cell-cycle arrest.

PMID 23894400 2013 High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.

PMID 21345075 2011 Multiple malignancies in a child with de novo TP53 mutation.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 24814347 2014 The DNA-binding domain mediates both nuclear and cytosolic functions of p53.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28961279 2017 The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

PMID 22507745 2012 Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

PMID 10987134 2000 The p53 mutation which abrogates trans-activation while maintaining its growth-suppression activity.

PMID 18762572 2008 Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.

PMID 14559903 2004 Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.

PMID 10697617 2000 Two cases of osteosarcoma occurring as second malignancy of childhood cancer.

PMID 20017945 2009 Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome.

PMID 24198462 2009 Specific mutation screening of TP53 gene by low-density DNA microarray.

PMID 8023157 1994 Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.

PMID 23359294 2013 Only missense mutations affecting the DNA binding domain of p53 influence outcomes in patients with breast carcinoma.

PMID 19367287 2009 TP53 mutations predict disease control in metastatic colorectal cancer treated with cetuximab-based chemotherapy.

PMID 15541116 2004 A modified yeast assay used on archival samples of localized prostate cancer tissue improves the detection of p53 abnormalities and increases their predictive value.

PMID 23981578 2014 Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.

PMID 26822237 2016 Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

PMID 19834951 2010 The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube.

PMID 21761402 2012 Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

PMID 24382691 2014 Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.

PMID 20198344 2010 Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.

PMID 20364130 2010 Diversity in DNA recognition by p53 revealed by crystal structures with Hoogsteen base pairs.

PMID 18489080 2008 The pattern of p53 mutations caused by PAH o-quinones is driven by 8-oxo-dGuo formation while the spectrum of mutations is determined by biological selection for dominance.

PMID 10980596 2000 Novel p53 splice site mutations in three families with Li-Fraumeni syndrome.

PMID 19127094 2008 A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature.

PMID 22187033 2012 High frequency of complex TP53 mutations in CNS metastases from breast cancer.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

PMID 19759556 2010 TP53 mutations in myeloid malignancies are either homozygous or hemizygous due to copy number-neutral loss of heterozygosity or deletion of 17p.

PMID 26900293 2016 Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

PMID 26876197 2016 Heterozygous p53(V172F) mutation in cisplatin-resistant human tumor cells promotes MDM4 recruitment and decreases stability and transactivity of p53.

PMID 19581934 2009 Impaired p53 binding to importin: a novel mechanism of cytoplasmic sequestration identified in oxaliplatin-resistant cells.

PMID 15781632 2005 CDK4 and MDM2 gene alterations mainly occur in highly proliferative and aggressive mantle cell lymphomas with wild-type INK4a/ARF locus.

PMID 11715068 2001 The timing and characterization of p53 mutations in progression from atypical ductal hyperplasia to invasive lesions in the breast cancer.

PMID 27683180 2017 Somatic and Germline TP53 Alterations in Second Malignant Neoplasms from Pediatric Cancer Survivors.

PMID 16760300 2006 Novel P53 mutations detected by FAMA in colorectal cancers.

PMID 9667734 1998 Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.

PMID 11051239 2000 Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.

PMID 24729566 2014 Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

PMID 21552135 2011 Gastric cancer in individuals with Li-Fraumeni syndrome.

PMID 17224074 2007 Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas.

PMID 24076587 2014 Mapping the p53 transcriptome universe using p53 natural polymorphs.

PMID 23580068 2013 Prevalence of germline TP53 mutations in HER2+ breast cancer patients.

PMID 22653678 2012 Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey.

PMID 29324801 2018 Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.

PMID 29025599 2017 Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.

PMID 27374712 2016 Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 8527048 1995 The first documentation of Li-Fraumeni syndrome in Korea.

PMID 28472496 2017 Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

PMID 24651015 2014 Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.

PMID 24573247 2014 Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.

PMID 24038938 2014 Association of TP53 polymorphisms on the risk of Wilms tumor.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 1978757 1990 Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

PMID 19378321 2009 Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome.

PMID 22265402 2012 Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.

PMID 20128691 2010 Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

PMID 23172776 2013 Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients.

PMID 15308588 2004 Clinical implications of p53 mutation analysis in bladder cancer tissue and urine sediment by functional assay in yeast.

PMID 10557074 1999 Cells with TP53 mutations in low grade astrocytic tumors evolve clonally to malignancy and are an unfavorable prognostic factor.

PMID 15077194 2004 Tumor-derived p53 mutants induce oncogenesis by transactivating growth-promoting genes.

PMID 21561095 2011 Structural effects of the L145Q, V157F, and R282W cancer-associated mutations in the p53 DNA-binding core domain.

PMID 16778209 2006 Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells.

PMID 11590071 2001 Loss of MDM2 expression in human head and neck squamous cell carcinomas and clinical significance.

PMID 15161705 2004 Rapid and sensitive p53 alteration analysis in biopsies from lung cancer patients using a functional assay and a universal oligonucleotide array: a prospective study.

PMID 12779080 2003 Comparison of p53 mutational status with mRNA and protein expression in a panel of 24 human breast carcinoma cell lines.

PMID 10754498 2000 Clinical significance of p53 functional loss in squamous cell carcinoma of the oropharynx.

PMID 15037740 2004 A global suppressor motif for p53 cancer mutants.

PMID 7791795 1995 Role of cysteine residues in regulation of p53 function.

PMID 2259385 1991 Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.

PMID 1737852 1992 Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.

PMID 24700732 2014 Analysis of TP53 mutation status in human cancer cell lines: a reassessment.

PMID 23334668 2013 The genomic landscape of hypodiploid acute lymphoblastic leukemia.

PMID 16494995 2007 The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

PMID 27081505 2014 Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.

PMID 11753428 2002 A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer.

PMID 11481490 2001 An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma.

PMID 19877175 2010 Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

PMID 16007150 2005 The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

PMID 23570263 2013 TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient.

PMID 25736369 2015 Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in Paraguay.

PMID 11254385 2001 Structure and functionality of a designed p53 dimer.

PMID 27714481 2017 TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.

PMID 26681051 2015 R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature.

PMID 27553368 2016 Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

PMID 24936644 2014 We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older.

PMID 18248785 2008 Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil.

PMID 26823150 2016 Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.

PMID 24784157 2014 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

PMID 25945745 2015 DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.

PMID 20978130 2011 Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

PMID 20028212 2010 p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome.

PMID 24395441 2014 Protective effect of the Y220C mutant p53 against steatosis: good news?

PMID 23315175 2013 Effect of Y220C mutation on p53 and its rescue mechanism: a computer chemistry approach.

PMID 25339994 2014 Oncomorphic TP53 Mutations in Gynecologic Cancers Lose the Normal Protein:Protein Interactions with the microRNA Microprocessing Complex.

PMID 27724982 2016 TP53 gene mutation analysis in chronic lymphocytic leukemia by nanopore MinION sequencing.

PMID 21535297 2011 "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."

PMID 24677579 2014 Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.

PMID 8164043 1994 Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma.

PMID 15017592 2004 Loss of p53 transcriptional activity in hepatocellular carcinoma evaluated by yeast-based functional assay: comparison with p53 immunohistochemistry.

PMID 8479749 1993 Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings.

PMID 23255406 2013 Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

PMID 24371653 2012 Novel TP53 gene mutation and correlation with p53 immunohistochemistry in a mixed epithelial carcinoma of the endometrium.

PMID 27726232 2017 Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.

PMID 9067756 1997 Three germline mutations in the TP53 gene.

PMID 11370630 2001 Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

PMID 25927356 2015 Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

PMID 26024390 2015 TP53: an oncogene in disguise.

PMID 8062826 1994 Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation.

PMID 10567903 1999 Prognostic significance of p53 mutation in breast cancer: frequent detection of non-missense mutations by yeast functional assay.

PMID 25123297 2015 Tumor genome analysis includes germline genome: are we ready for surprises?

PMID 21601526 2011 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

PMID 12619103 2003 The UMD-p53 database: new mutations and analysis tools.

PMID 25584637 2015 Oxidation of p53 through DNA charge transport involves a network of disulfides within the DNA-binding domain.

PMID 7887414 1995 Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

PMID 26014290 2015 Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

PMID 9115587 1997 Reappraisal of p53 mutations in human malignant astrocytic neoplasms by p53 functional assay: comparison with conventional structural analyses.

PMID 10519380 1999 Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme.

PMID 19468865 2009 TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

PMID 20505364 2010 Transactivation by temperature-dependent p53 mutants in yeast and human cells.

PMID 22198284 2012 p53 mutants induce transcription of NF-κB2 in H1299 cells through CBP and STAT binding on the NF-κB2 promoter and gain of function activity.

PMID 21305319 2011 Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.

PMID 12610779 2003 Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.

PMID 24630730 2014 Synonymous mutations frequently act as driver mutations in human cancers.

PMID 28026089 2017 Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

PMID 19930417 2010 Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.

PMID 19556618 2009 High frequency of de novo mutations in Li-Fraumeni syndrome.

PMID 22887876 2012 The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age.

PMID 27189670 2016 Assessing mutant p53 in primary high-grade serous ovarian cancer using immunohistochemistry and massively parallel sequencing.

PMID 1565143 1992 Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

PMID 15850016 2005 Primary orbital liposarcoma in Li-Fraumeni cancer family syndrome: a case report.

PMID 27077130 2016 Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

PMID 21059199 2010 Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.

PMID 10864200 2000 P53 germline mutations in childhood cancers and cancer risk for carrier individuals.

PMID 22672556 2012 Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

PMID 12885464 2003 A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

PMID 10922393 2000 Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.

PMID 1591732 1992 Screening for germ line TP53 mutations in breast cancer patients.

PMID 18511570 2008 Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

PMID 16401470 2006 Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.

PMID 9364015 1997 Simple identification of dominant p53 mutants by a yeast functional assay.

PMID 16551709 2006 Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 26641009 2016 Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

PMID 8550239 1995 Incidence of germ-line p53 mutations in patients with gliomas.

PMID 9242456 1997 Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

PMID 7783166 1995 Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.

PMID 24835218 2014 Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib.

PMID 29263802 2016 Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

PMID 23538418 2013 Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.

PMID 24122735 2013 Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

PMID 15951970 2005 The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.

PMID 27621308 2016 Acute myeloid leukemia with TP53 germ line mutations.

PMID 28453743 2017 Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 27516001 2016 Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing.

PMID 8825920 1995 An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 19127115 2008 Genetic counseling can influence the course of a suspected familial cancer syndrome patient: from a case of Li-Fraumeni like syndrome with a germline mutation in the TP53 gene.

PMID 23792586 2013 A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion.

PMID 23263379 2013 p53 mutations in cancer.

PMID 22233476 2012 Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations.

PMID 16707427 2006 Identification of a novel germ line variant hotspot mutant p53-R175L in pediatric adrenal cortical carcinoma.

PMID 7799951 1995 Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome.

PMID 21311097 2010 A molecular signature of normal breast epithelial and stromal cells from Li-Fraumeni syndrome mutation carriers.

PMID 1933902 1991 A germ line mutation in exon 5 of the p53 gene in an extended cancer family.

PMID 1686725 1991 TP53 gene mutations and 17p deletions in human astrocytomas.

PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 23967324 2013 Clinical relevance of gain-of-function mutations of p53 in high-grade serous ovarian carcinoma.

PMID 23625637 2013 Serine substitution of proline at codon 151 of TP53 confers gain of function activity leading to anoikis resistance and tumor progression of head and neck cancer cells.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 9525742 1998 A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect.

PMID 12019170 2002 Initiation of human astrocytoma by clonal evolution of cells with progressive loss of p53 functions in a patient with a 283H TP53 germ-line mutation: evidence for a precursor lesion.

PMID 15580553 2005 Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

PMID 25490274 2015 Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

PMID 17311302 2007 Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

PMID 28477317 2018 TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma.

PMID 25184754 2014 Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection.

PMID 17318340 2007 Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.

PMID 10435620 1999 p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome.

PMID 27146902 2016 Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

PMID 9766574 1998 Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain.

PMID 25226867 2015 Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.

PMID 19714490 2009 p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma.

PMID 28767289 2017 Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

PMID 28772290 2017 Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging.

PMID 23175693 2013 Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.

PMID 1631137 1992 Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.

PMID 8675009 1996 The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway.

PMID 20471942 2010 DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis.

PMID 28091804 2017 Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.

PMID 27501770 2016 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

PMID 24803582 2014 TP53 mutation spectrum in breast cancer is subtype specific and has distinct prognostic relevance.

PMID 8134126 1994 Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation.

PMID 20658636 2010 Acute lymphoblastic leukemia after temozolomide treatment for anaplastic astrocytoma in a child with a germline TP53 mutation.

PMID 27059324 2016 Identical TP53 mutations in pelvic carcinosarcomas and associated serous tubal intraepithelial carcinomas provide evidence of their clonal relationship.

PMID 26425688 2015 TP53 Mutational Status and Prediction of Benefit from Adjuvant 5-Fluorouracil in Stage III Colon Cancer Patients.

PMID 8887616 1996 Detection of p53 gene mutations in cytopathology and biopsy specimens from patients with lung cancer.

PMID 9301461 1997 The status of p53 in the metastatic progression of colorectal cancer.

PMID 19558493 2009 Investigation and prediction of the severity of p53 mutants using parameters from structural calculations.

PMID 8075648 1994 Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations.

PMID 26022348 2015 HBOC multi-gene panel testing: comparison of two sequencing centers.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 21232794 2011 A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.

PMID 1562462 1992 Constitutional p53 mutation in a non-Li-Fraumeni cancer family.

PMID 19367569 2009 Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements.

PMID 21060032 2010 TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma.

PMID 28573494 2017 A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.

PMID 9627118 1998 Human tumor-derived p53 proteins exhibit binding site selectivity and temperature sensitivity for transactivation in a yeast-based assay.

PMID 2750177 1989 New laws about sexual misconduct by therapists: knowledge and attitudes among Wisconsin psychiatrists.

PMID 23259501 2012 Number of rare germline CNVs and TP53 mutation types.

PMID 22170717 2012 TP53 germline mutations in adult patients with adrenocortical carcinoma.

PMID 9446663 1998 17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ.

PMID 21348412 2010 Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.

PMID 20501846 2010 Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study.

PMID 11420676 2001 Characterization of germline TP53 splicing mutations and their genetic and functional analysis.

PMID 25584008 2015 Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.

PMID 1961027 1991 Inactivation of the p53 gene expression by a splice donor site mutation in a human T-cell leukemia cell line.

PMID 1467311 1992 Germ-line splicing mutation of the p53 gene in a cancer-prone family.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 18208484 2008 Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation.

PMID 8869100 1996 A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome.

PMID 11920788 2002 Analysis of TP53 germline mutations in pediatric tumor patients using DNA microarray-based sequencing technology.

PMID 10871862 2000 Identification of a tumor-derived p53 mutant with novel transactivating selectivity.

PMID 17541742 2008 Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families.

PMID 19462533 2009 Dissection of the sequence-specific DNA binding and exonuclease activities reveals a superactive yet apoptotically impaired mutant p53 protein.

PMID 12695689 2003 Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol.

PMID 25896519 2015 Germline TP53 variants and susceptibility to osteosarcoma.

PMID 1377002 1992 TP53 tumor suppressor gene: a model for investigating human mutagenesis.

PMID 22989750 2012 Allele specific gain-of-function activity of p53 mutants in lung cancer cells.

PMID 19100519 2009 TP53 mutations but no CHEK2 *1100DelC variant in familial gliomas.

PMID 7664239 1995 Constitutional p53 mutations associated with brain tumors in young adults.

PMID 20127978 2010 Genetic diagnosis of familial breast cancer using clonal sequencing.

PMID 16000567 2005 Assessment of the transcriptional activity of p53 improves the prediction of recurrence in superficial transitional cell carcinoma of the bladder.

PMID 17572079 2007 Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation.

PMID 9764816 1998 Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

PMID 10713666 2000 Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy.

PMID 20967502 2011 Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.

PMID 11507071 2001 Loss of p53 function confers high-level multidrug resistance in neuroblastoma cell lines.

PMID 23612969 2013 A novel p53 mutant found in iatrogenic urothelial cancers is dysfunctional and can be rescued by a second-site global suppressor mutation.

PMID 9704930 1998 Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members.

PMID 16033918 2006 Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

PMID 9704931 1998 Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome.

PMID 20478780 2010 [Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation].

PMID 9452042 1998 A germline missense mutation R337C in exon 10 of the human p53 gene.

PMID 9150393 1997 Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family.

PMID 27866339 2017 Recurrent TP53 missense mutation in cancer patients of Arab descent.

PMID 28486781 2017 Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

PMID 1581912 1992 Inherited p53 gene mutations in breast cancer.

PMID 26086041 2015 Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.

PMID 7966399 1994 High frequency of germline p53 mutations in childhood adrenocortical cancer.

PMID 22866089 2011 TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution.

PMID 14673037 2003 TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms.

PMID 16818505 2006 Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y).

PMID 15611070 2005 Binding of Rad51 and other peptide sequences to a promiscuous, highly electrostatic binding site in p53.

PMID 16204849 2005 The contribution of the Trp/Met/Phe residues to physical interactions of p53 with cellular proteins.

PMID 28369373 2017 Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 10949938 2000 p53 gene mutation and ink4a-arf deletion appear to be two mutually exclusive events in human glioblastoma.

PMID 16322298 2005 Clinical relevance of dominant-negative p73 isoforms for responsiveness to chemotherapy and survival in ovarian cancer: evidence for a crucial p53-p73 cross-talk in vivo.

PMID 21665182 2011 Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

PMID 17567834 2007 Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age.

PMID 9020384 1997 Germline p53 mutation at codon 133 in a cancer-prone family.

PMID 20421238 2010 Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker.

PMID 21763698 2011 Structural and functional impact of cancer-related missense somatic mutations.

PMID 12124823 2002 Influence of p53 mutations on prognosis of patients with glioblastoma.

PMID 10914716 2000 Detection of minimal residual cancer to investigate why oral tumors recur despite seemingly adequate treatment.

PMID 16288208 2006 AP2alpha alters the transcriptional activity and stability of p53.

PMID 15825182 2005 Functional analysis of p53 gene and the prognostic impact of dominant-negative p53 mutation in endometrial cancer.

PMID 15192123 2004 Constitutive and DNA damage inducible activation of pig3 and MDM2 genes by tumor-derived p53 mutant C277Y.

PMID 19671856 2009 Profiling of chemonaive osteosarcoma and paired-normal cells identifies EBF2 as a mediator of osteoprotegerin inhibition to tumor necrosis factor-related apoptosis-inducing ligand-induced apoptosis.

PMID 18685109 2008 Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

PMID 11900253 2001 Rescuing the function of mutant p53.

PMID 20436704 2010 TP53 mutations in Korean patients with non-small cell lung cancer.

PMID 27022024 2016 Modeling the Etiology of p53-mutated Cancer Cells.

PMID 19046423 2008 Association of the germline TP53 R337H mutation with breast cancer in southern Brazil.

PMID 24077944 2014 Characterization of a novel tumorigenic esophageal adenocarcinoma cell line: OANC1.

PMID 17417968 2007 Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity.

PMID 24113472 2014 SF3B1 mutations correlated to cytogenetics and mutations in NOTCH1, FBXW7, MYD88, XPO1 and TP53 in 1160 untreated CLL patients.

PMID 21483000 2011 Mutational status of the TP53 gene as a predictor of response and survival in patients with chronic lymphocytic leukemia: results from the LRF CLL4 trial.

PMID 8242631 1993 TP53 gene mutation profile in esophageal squamous cell carcinomas.

PMID 22911296 2012 Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.

PMID 17390010 2007 Oncogenic mutation of the p53 gene derived from head and neck cancer prevents cells from undergoing apoptosis after DNA damage.

PMID 21056685 2011 Co-localization of mutant p53 and amyloid-like protein aggregates in breast tumors.

PMID 17573896 2007 p53 gene mutations in esophageal squamous cell carcinoma and their relevance to etiology and pathogenesis: results in Japan and comparisons with other countries.

PMID 12509279 2002 A novel p53 mutant retained functional activity in lung carcinomas.

PMID 9569035 1998 Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.

PMID 26718964 2016 Complex analysis of the p53 tumor suppressor in lung carcinoma.

PMID 8308926 1994 Germline p53 gene mutations in subsets of glioma patients.

PMID 11285227 2001 COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system.

PMID 9572492 1998 p53 mutations isolated in yeast based on loss of transcription factor activity: similarities and differences from p53 mutations detected in human tumors.

PMID 14584079 2003 Familial sarcoma: challenging pedigrees.

PMID 21159183 2010 p53 in head and neck cancer: functional consequences and environmental implications of TP53 mutations.

PMID 19147582 2009 High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors.

PMID 8458321 1993 The transforming and suppressor functions of p53 alleles: effects of mutations that disrupt phosphorylation, oligomerization and nuclear translocation.

PMID 22768918 2012 p53 Mutagenesis by benzo[a]pyrene derived radical cations.

PMID 8080050 1994 Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness.

PMID 10229196 1999 Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.

PMID 10654936 2000 Mechanism of rescue of common p53 cancer mutations by second-site suppressor mutations.

PMID 15703170 2005 Structures of p53 cancer mutants and mechanism of rescue by second-site suppressor mutations.

PMID 9524109 1998 Genetic selection of intragenic suppressor mutations that reverse the effect of common p53 cancer mutations.

PMID 17401432 2007 Structure-function-rescue: the diverse nature of common p53 cancer mutants.

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PMID 9359923 1997 Yeast functional assay of the p53 gene status in human cell lines maintained in our laboratory.

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PMID 23196062 2013 Comprehensive DNA methylation and extensive mutation analyses reveal an association between the CpG island methylator phenotype and oncogenic mutations in gastric cancers.

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 16793544 2006 Structural basis of DNA recognition by p53 tetramers.

PMID 8118819 1994 Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

PMID 16035029 2005 Cooperative binding of p53 to DNA: regulation by protein-protein interactions through a double salt bridge.

PMID 23665223 2013 p53 DNA binding cooperativity is essential for apoptosis and tumor suppression in vivo.

PMID 15221755 2004 Functional protein microarrays for parallel characterisation of p53 mutants.

PMID 10206274 1999 Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations.

rs118203434 in TSC1 gene and Neoplastic Syndromes, Hereditary PMID 27470532 2016 Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.

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PMID 15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

PMID 10533066 1999 Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 9242607 1997 Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

PMID 9924605 1998 Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

PMID 23341583 2013 Multiple pulmonary artery aneurysms in tuberous sclerosis complex.

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PMID 18032745 2008 Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.

PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 12015165 2002 Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.

PMID 9803264 1998 A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.

rs137854028 in TSC2 gene and Neoplastic Syndromes, Hereditary PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 10533067 1999 Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

PMID 11741832 2001 TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

PMID 15483652 2005 Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 20633017 2010 Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

PMID 28211972 2017 TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

PMID 15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

PMID 22490766 2012 Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.

PMID 10533066 1999 Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.

PMID 15595939 2005 Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

PMID 8824881 1996 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

PMID 12111193 2002 TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

PMID 10735580 1999 Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 21811971 2011 [Mutation screening and prenatal diagnosis of tuberous sclerosis complex].

PMID 25782670 2015 Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

PMID 25432535 2015 A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

PMID 21332470 2012 Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.

PMID 17120248 2006 Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

PMID 12015165 2002 Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.

PMID 20399389 2010 Tuberous sclerosis complex with a single brain lesion on MRI mimicking focal cortical dysplasia.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 21910228 2011 Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.

rs137854218 in TSC2;PKD1 gene and Neoplastic Syndromes, Hereditary PMID 9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

rs104893825 in VHL gene and Neoplastic Syndromes, Hereditary PMID 12202531 2002 Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

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PMID 8550742 1996 Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene.

PMID 8730290 1996 Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

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PMID 10587522 1999 Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein.

PMID 18209888 2007 Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing.

PMID 20151405 2010 Genetic analysis of von Hippel-Lindau disease.

PMID 21463266 2011 Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

PMID 24555745 2014 Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.

PMID 19808854 2009 Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome.

PMID 9663592 1998 Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

PMID 11331612 2001 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

PMID 17661816 2007 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

PMID 15300849 2004 Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

PMID 12393546 2003 Mutations in the VHL gene in sporadic apparently congenital polycythemia.

PMID 24581539 2014 Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.

PMID 23102223 2012 Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface.

PMID 24729484 2014 The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.

PMID 21454469 2011 Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.

PMID 26323595 2015 A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family.

PMID 23397066 2013 Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green.

PMID 22145147 2011 Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease.

PMID 12004076 2002 Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling.

PMID 25661653 2015 Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex.

PMID 11058902 2000 Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.

PMID 24727139 2015 Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.

PMID 17997830 2007 Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.

PMID 24518179 2014 In Silico Analysis Identification of a Novel Germ-Line VHL Mutation in a Patient of Malignant Pheochromocytoma.

PMID 9681856 1998 Genotype-phenotype correlations in von Hippel-Lindau disease.

PMID 7977367 1994 Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.

PMID 20567917 2010 Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.

PMID 22357542 2012 Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

PMID 9829912 1998 Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

PMID 19602254 2009 Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.

PMID 15935760 2005 Folding and quality control of the VHL tumor suppressor proceed through distinct chaperone pathways.

PMID 27811160 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 17102088 2006 von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas.

PMID 15607616 2004 Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.

PMID 19270817 2009 Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 17102082 2006 Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

PMID 21389259 2011 Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.

PMID 22799452 2012 Identification of 3 novel VHL germ-line mutations in Danish VHL patients.

PMID 21362373 2011 Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

PMID 9829911 1998 Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

PMID 25371412 2014 Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

PMID 23859443 2013 Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

PMID 23660872 2013 Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.

PMID 16969113 2006 The positive regulation of p53 by the tumor suppressor VHL.

PMID 14722919 2004 Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

PMID 16210343 2006 Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

PMID 24969085 2014 An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

PMID 11987242 2003 Endemic polycythemia in Russia: mutation in the VHL gene.

PMID 14604959 2004 The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

PMID 12844285 2003 Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

PMID 12415268 2002 Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 27651169 2016 Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

PMID 21876117 2011 Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 15177666 2004 VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference?

PMID 19030229 2008 VHL type 2B mutations retain VBC complex form and function.

PMID 17992257 2007 von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

PMID 15574766 2004 In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.

PMID 17264095 2007 VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.

PMID 18836774 2008 Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.

PMID 21993671 2012 Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia).

PMID 21606165 2011 The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.

PMID 23403324 2013 The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).

PMID 23015148 2013 Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 19029228 2009 Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 19574279 2009 Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.

PMID 14500403 2003 Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

PMID 19958924 2009 Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome.

PMID 19763184 2009 The Warburg effect is genetically determined in inherited pheochromocytomas.

PMID 20660572 2010 Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

PMID 24132471 2014 Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations.

PMID 7553625 1995 Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations.

PMID 17024664 2007 Genotype-phenotype correlations in von Hippel-Lindau disease.

PMID 18580449 2008 Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.

PMID 25562111 2015 Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.

PMID 10823831 2000 Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.

PMID 19464396 2009 Germline mutations in the von Hippel-Lindau gene in Italian patients.

PMID 8634692 1995 Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.

PMID 27057652 2016 Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.

PMID 16952288 2006 Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature.

PMID 11257211 2001 "Is the P25L a ""real"" VHL mutation?"

PMID 27527340 2016 Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.

PMID 8707293 1996 Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.

PMID 22649785 2012 The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer.

PMID 7728151 1995 Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

PMID 17350623 2007 PKCzetaII is a target for degradation through the tumour suppressor protein pVHL.

PMID 10567493 1999 The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.

PMID 10408776 1999 Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

PMID 25078357 2014 Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

PMID 27439424 2016 Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

PMID 25715769 2016 A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.

PMID 15611064 2005 Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.

PMID 12510195 2003 Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.

PMID 21204227 2011 Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.

PMID 27617348 2016 VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.

PMID 24301059 2014 VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 7987327 1994 A novel mutation in the von Hippel-Lindau gene.

PMID 7987306 1994 Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 26812297 2015 Sunitinib treatment for multifocal renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (NET) in patient with Von Hippel-Lindau disease. Case Report.

PMID 28944243 2017 Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing.

PMID 25952756 2015 Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.

PMID 10900011 2000 Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 22105611 2011 Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease.

PMID 20518900 2010 Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma.

PMID 12114495 2002 Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

PMID 25867206 2016 Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

PMID 19009041 2008 Genetic counseling in renal masses.

PMID 15642680 2005 Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

PMID 7563486 1995 Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.

PMID 23772956 2013 Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.

PMID 16452184 2006 Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis.

PMID 8772572 1996 Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease.

PMID 19228690 2009 VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.

PMID 23298237 2013 Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.

PMID 17688370 2007 Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.

PMID 16502427 2006 The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

PMID 20233476 2004 Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.

PMID 27311873 2016 Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.

PMID 17906660 2007 Nuclear E-cadherin and VHL immunoreactivity are prognostic indicators of clear-cell renal cell carcinoma.

PMID 8592333 1995 Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

PMID 14636579 2003 Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding.

PMID 14556007 2003 Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein.

PMID 10766184 2000 VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation.

PMID 11409863 2001 DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.

PMID 20846682 2010 Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup.

PMID 9435426 1998 Pheochromocytoma in von Hippel-Lindau disease: clinical presentation and mutation analysis in a large, multigenerational kindred.

PMID 23318261 2013 Proteostasis modulators prolong missense VHL protein activity and halt tumor progression.

PMID 23673869 2014 Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family.

PMID 10761708 2000 Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.

PMID 18446368 2008 Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

PMID 20120764 2009 Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family.

PMID 24466223 2014 Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

PMID 24707167 2014 Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.

PMID 23842656 2013 p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.

PMID 9215674 1997 Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

PMID 12050673 2002 Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.

PMID 22105711 2012 Effects of point mutations in pVHL on the binding of HIF-1α.

PMID 22071692 2011 Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation.

PMID 11160785 2001 Genetic testing for cancer predisposition.

PMID 12500216 2003 Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.

PMID 24678776 2014 De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.

PMID 27530247 2016 Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.

PMID 20145706 2009 VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.

PMID 8829648 1996 Identification of two sporadically derived mutations in the Von Hippel-Lindau gene.

PMID 21715564 2011 VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.

PMID 22683710 2012 BAP1 loss defines a new class of renal cell carcinoma.

PMID 23788753 2013 Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma.

PMID 16847331 2006 Priming-dependent phosphorylation and regulation of the tumor suppressor pVHL by glycogen synthase kinase 3.

PMID 19408298 2009 Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.

PMID 11921283 2002 Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.

PMID 16585181 2006 Regulation of E-cadherin expression by VHL and hypoxia-inducible factor.

PMID 27179072 2016 Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein.

PMID 15956968 2005 Synergistic growth inhibition by Iressa and Rapamycin is modulated by VHL mutations in renal cell carcinoma.

rs151110146 in XRCC2 gene and Neoplastic Syndromes, Hereditary PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 27233470 2016 Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.

PMID 22464251 2012 Rare mutations in XRCC2 increase the risk of breast cancer.