Condition: Hereditary Nonpolyposis Colorectal Neoplasms
rs587780059 in
AIMP2;PMS2 gene and
Hereditary Nonpolyposis Colorectal Neoplasms
PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
PMID 27476653 2016 Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel 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 11897781 2002 Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair.
PMID 11574484 2001 Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase.
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.
rs376155665 in
EPCAM gene and
Hereditary Nonpolyposis Colorectal Neoplasms
PMID 23462293 2013 Absence of cell-surface EpCAM in congenital tufting enteropathy.
PMID 28701297 2017 Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.
PMID 24142340 2014 Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
rs267607709 in
EPM2AIP1;MLH1 gene and
Hereditary Nonpolyposis Colorectal Neoplasms
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 15713769 2005 Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
PMID 19267393 2009 Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
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 15475387 2004 Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
PMID 12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
PMID 20704743 2010 A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.
PMID 20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
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 11112663 2001 Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.
PMID 24302565 2015 Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
PMID 22878509 2013 Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.
PMID 29790873 2018 Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
rs1057517764 in
FBXO11;MSH6 gene and
Hereditary Nonpolyposis Colorectal Neoplasms
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 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
PMID 26485756 2015 Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?
PMID 25110875 2015 Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.
PMID 18269114 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.
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 26687385 2016 Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.
PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
PMID 22081473 2012 Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.
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 22306203 2012 Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.
PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.
PMID 23729658 2013 UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.
PMID 19851887 2010 An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.
PMID 16464007 2006 DNA mismatch repair: functions and mechanisms.
PMID 15952900 2005 DNA mismatch repair.
PMID 24100870 2013 Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.
PMID 17531815 2007 Structure of the human MutSalpha DNA lesion recognition complex.
PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
PMID 24689082 2014 A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
PMID 18389388 2008 Mutation spectrum in HNPCC in the Israeli population.
PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.
PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.
PMID 23652311 2013 Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.
PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
PMID 26318770 2015 Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
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 9929971 1999 Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer.
PMID 22734033 2012 Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome.
PMID 9307272 1997 Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.
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 15837969 2005 Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?
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 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 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.
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 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
PMID 12732731 2003 Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.
PMID 15098177 2004 Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.
PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.
PMID 16360201 2006 The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer.
PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
PMID 12376742 2002 Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype.
PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.
PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.
PMID 26544533 2016 Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
PMID 21155762 2011 Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.
PMID 24440087 2014 Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
PMID 15236168 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
PMID 23621914 2013 CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
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 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 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 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
PMID 17718861 2007 Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC.
PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.
PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
PMID 22144684 2012 Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.
PMID 25142776 2015 Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.
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 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 17199584 2007 MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?
PMID 21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
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 27696107 2017 Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
PMID 18409202 2008 Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
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 21039432 2011 Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.
PMID 22250089 2012 Human MSH6 deficiency is associated with impaired antibody maturation.
PMID 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.
PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
PMID 2059188 1991 """Central arousal"" and sexual responsiveness in the snail, Helix aspersa."
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 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
PMID 20682701 2010 The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.
PMID 19130300 2009 Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum.
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.
rs1057517541 in
MLH1 gene and
Hereditary Nonpolyposis Colorectal Neoplasms
PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
PMID 20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
PMID 12799449 2003 N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha.
PMID 21901500 2012 Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.
PMID 16338176 2006 Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair.
PMID 28874130 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
PMID 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
PMID 24903654 2015 Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience.
PMID 15713769 2005 Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
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 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
PMID 26248088 2015 Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.
PMID 25197397 2014 Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.
PMID 10422993 1999 Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
PMID 10923051 2000 Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer.
PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
PMID 18931482 2008 Mismatch repair gene mutations in Chinese HNPCC patients.
PMID 25892863 2015 Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.
PMID 18389388 2008 Mutation spectrum in HNPCC in the Israeli population.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 19267393 2009 Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
PMID 15991306 2005 Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
PMID 16830052 2006 Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.
PMID 15879014 2005 Fordyce granules and hereditary non-polyposis colorectal cancer syndrome.
PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
PMID 15235038 2004 Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.
PMID 11112663 2001 Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.
PMID 22290698 2012 Classification of mismatch repair gene missense variants with PON-MMR.
PMID 23729658 2013 UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.
PMID 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
PMID 23747338 2013 Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.
PMID 8521398 1995 Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
PMID 24851142 2014 Familial cancer among consecutive uterine cancer patients in Sweden.
PMID 24278394 2013 Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
PMID 20223024 2006 Some aspects of molecular diagnostics in Lynch syndrome.
PMID 10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.
PMID 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.
PMID 10732761 2000 Extensive molecular screening for hereditary non-polyposis colorectal cancer.
PMID 7557107 1995 In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer.
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 21671475 2012 An American founder mutation in MLH1.
PMID 18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.
PMID 17653898 2007 Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.
PMID 19685281 2009 Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.
PMID 12655562 2003 Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.
PMID 15365996 2004 Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
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 15289847 2004 Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer.
PMID 19669161 2010 Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
PMID 16379545 2005 Impact of genetic counseling and DNA testing on individuals with colorectal cancer with a positive family history: a population-based study.
PMID 16181381 2005 Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes.
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 17473388 2007 A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.
PMID 17505997 2007 Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.
PMID 9490293 1998 Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.
PMID 7728749 1995 Alternative splicing of MLH1 messenger RNA in human normal cells.
PMID 20937110 2010 Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
PMID 17054581 2006 Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
PMID 11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
PMID 16395668 2006 Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
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 11524701 2001 The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.
PMID 12624141 2003 Cancer risk in 348 French MSH2 or MLH1 gene carriers.
PMID 25081409 2014 Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing.
PMID 22883484 2013 Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.
PMID 19698169 2009 Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
PMID 11606497 2001 The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer.
PMID 11208710 2001 Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.
PMID 17222328 2007 A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.
PMID 20034658 2010 Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening.
PMID 14574010 2001 Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations.
PMID 17348456 2007 Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.
PMID 16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
PMID 10200055 1998 Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer. Mutations in brief no. 144. Online.
PMID 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
PMID 9322509 1997 Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer.
PMID 21286823 2011 Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.
PMID 15178966 1998 Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics.
PMID 8776590 1996 DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
PMID 15926618 2005 Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer.
PMID 14635101 2003 Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
PMID 17095871 2006 Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany.
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 15855432 2005 Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.
PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.
PMID 12067992 2002 Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families.
PMID 15345113 2004 Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India.
PMID 28135145 2017 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
PMID 8128251 1994 Mutation of a mutL homolog in hereditary colon cancer.
PMID 22736432 2012 Comprehensive functional assessment of MLH1 variants of unknown significance.
PMID 21286667 2011 Molecular analysis of Fanconi anemia and mismatch repair genes in patients with colorectal carcinoma.
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.
PMID 20864636 2010 A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
PMID 9697702 1998 Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
PMID 12810663 2003 A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
PMID 8630936 1996 Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred.
PMID 8646682 1996 Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome.
PMID 16616355 2006 Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.
PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
PMID 24802709 2014 A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
PMID 27295708 2016 [Founder mutation in Lynch syndrome].
PMID 8797773 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
PMID 19459153 2009 High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
PMID 20215533 2010 Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
PMID 11291077 2001 MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer.
PMID 14645426 2003 Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.
PMID 16116158 2005 Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.
PMID 19224586 2009 Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.
PMID 10521294 1999 Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.
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 19690142 2009 Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.
PMID 26300997 2015 Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
PMID 21404117 2011 Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
PMID 19731080 2010 Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.
PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
PMID 10037723 1999 The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
PMID 8574961 1996 Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
PMID 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
PMID 9788388 1998 In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer.
PMID 24122200 2014 Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.
PMID 17087981 2006 GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation.
PMID 10985134 2000 Molecular genetics improves the management of hereditary non-polyposis colorectal cancer.
PMID 15475387 2004 Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
PMID 19142183 2009 The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.
PMID 18033691 2008 Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
PMID 24344984 2013 Mutation spectrum in South American Lynch syndrome families.
PMID 20459533 2010 Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome.
PMID 8571956 1996 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
PMID 18094436 2007 Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer.
PMID 12419761 2002 Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review.
PMID 15613555 2004 Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
PMID 11555625 2001 Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
PMID 15563510 2005 Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
PMID 18337503 2008 Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
PMID 10480359 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
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PMID 1061282 1976 [A method of study for stomatological materials].
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rs587779001 in
MLH1;EPM2AIP1 gene and
Hereditary Nonpolyposis Colorectal Neoplasms
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rs1060501991 in
MSH2 gene and
Hereditary Nonpolyposis Colorectal Neoplasms
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rs1064794075 in
MSH6 gene and
Hereditary Nonpolyposis Colorectal Neoplasms
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rs1060502926 in
MSH6;FBXO11 gene and
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rs1060503110 in
PMS2 gene and
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rs587779333 in
PMS2;AIMP2 gene and
Hereditary Nonpolyposis Colorectal Neoplasms
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