Xcode Life

Condition: Polyposis, Adenomatous Intestinal

rs1057517544 in APC gene and Polyposis, Adenomatous Intestinal

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

PMID 10923044 2000 Eleven novel APC mutations identified in Portuguese FAP families.

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

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 26309368 2015 Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil.

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

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

PMID 15311282 2004 EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration.

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

PMID 17293347 2007 Regulated binding of adenomatous polyposis coli protein to actin.

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

PMID 15131404 2004 Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.

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

PMID 9452101 1998 Detection of five novel germline mutations of the APC gene in Irish familial adenomatous polyposis families.

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

PMID 14522379 2003 Familial hepatoblastoma and APC gene mutations: renewed call for molecular research.

PMID 7746201 1995 Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia.

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

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

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

PMID 1843350 1991 Physiological mechanisms of pregnancy recognition in ruminants.

PMID 9067764 1997 Three novel germline mutations in the adenomatous polyposis coli gene.

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

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

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 21646762 2011 [A family with attenuated familial adenomatous polyposis identified because of fundic gland polyposis].

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

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

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

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

PMID 25604157 2015 High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

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

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

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

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

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

PMID 8940264 1996 Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene.

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

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

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

PMID 25317407 2014 Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature.

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

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

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

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

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

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

PMID 28127413 2017 Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

PMID 11317365 2001 Nine novel APC mutations in Italian FAP patients.

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

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

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

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

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

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 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 10713886 2000 APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients.

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

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

PMID 11748858 2001 Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis.

PMID 15108288 2004 First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.

PMID 1944466 1991 Sources of concern about the Patient Self-Determination Act.

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

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

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

PMID 9487968 1997 An unusually severe phenotype for familial adenomatous polyposis.

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

PMID 21779980 2011 A survey of APC mutations in Quebec.

PMID 12034871 2002 Attenuated APC alleles produce functional protein from internal translation initiation.

PMID 16461775 2006 Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

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

PMID 7959691 1994 Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis.

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

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

PMID 18224684 2008 Difference in characteristics of APC mutations between colonic and extracolonic tumors of FAP patients: variations with phenotype.

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

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

PMID 17064931 2007 Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

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

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

PMID 20564245 2010 APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis.

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

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

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

PMID 8111416 1993 Simple, rapid, and accurate determination of deletion mutations by automated DNA sequencing of heteroduplex fragments of the adenomatous polyposis coli (APC) gene generated by PCR amplification.

PMID 21643010 2011 Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

PMID 17426470 2007 3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors.

PMID 16736293 2006 A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family.

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

PMID 19725996 2007 Recurrent APC gene mutations in Polish FAP families.

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 23085758 2013 Different APC genotypes in proximal and distal sporadic colorectal cancers suggest distinct WNT/β-catenin signalling thresholds for tumourigenesis.

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

PMID 24310308 2014 ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

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

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

PMID 9751605 1998 Somatic instability of the APC I1307K allele in colorectal neoplasia.

PMID 15712637 2005 Colonic adenomas do not cosegregate with the I1307K APC missense mutation in an Israeli non-Ashkenazi family.

PMID 17854661 2007 How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population.

PMID 24416237 2014 Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.

PMID 9724771 1998 The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

PMID 24549056 2014 Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer.

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

PMID 8594558 1996 APC gene: database of germline and somatic mutations in human tumors and cell lines.

PMID 8162051 1994 Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

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

PMID 20513532 2010 Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.

PMID 8381581 1993 Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis.

PMID 12486240 2002 Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.

PMID 18794146 2008 One-hit effects in cancer: altered proteome of morphologically normal colon crypts in familial adenomatous polyposis.

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

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

PMID 24506336 2014 Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

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 15300576 2004 Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

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

PMID 10470088 1999 The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

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

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

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

PMID 8956059 1996 Three novel APC gene mutations in Portuguese FAP kindreds.

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

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

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

PMID 22431159 2012 Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

PMID 2068568 1991 Electrophoretic and nuclear magnetic resonance characterization of non-heparin glycosaminoglycans.

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

PMID 16680592 2006 Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma.

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

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

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

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 26414517 2016 Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes.

PMID 22164339 2011 Mutation Analysis of the APC Gene in a Chinese FAP Pedigree with Unusual Phenotype.

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

PMID 27343414 2016 The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature.

PMID 27087319 2016 Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

PMID 8125478 1994 Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death.

PMID 27623068 2016 Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis.