Condition: Hereditary Nonpolyposis Colorectal Cancer
rs587780059 in
AIMP2;PMS2 gene and
Hereditary Nonpolyposis Colorectal Cancer
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 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.
rs41285097 in
EPM2AIP1;MLH1 gene and
Hereditary Nonpolyposis Colorectal Cancer
PMID 12919137 2003 Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred.
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 12537657 2002 An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC.
PMID 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
PMID 20864636 2010 A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
PMID 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
PMID 23741719 2013 Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer--the DNA microarray assay.
PMID 21404117 2011 Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
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 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
PMID 18373977 2008 The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations.
PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
PMID 11948175 2002 Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.
PMID 12810663 2003 A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
PMID 25420488 2015 Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India.
rs1021631442 in
FBXO11;MSH6 gene and
Hereditary Nonpolyposis Colorectal Cancer
PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.
PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 24689082 2014 A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
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 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
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 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 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
PMID 15837969 2005 Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?
PMID 18809606 2008 Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
PMID 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.
PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
PMID 20045164 2010 Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers.
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 21674763 2011 High-grade brain tumors in siblings with biallelic MSH6 mutations.
PMID 22480969 2012 Simplified identification of Lynch syndrome: a prospective, multicenter study.
PMID 20591884 2010 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.
PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
PMID 9929971 1999 Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer.
PMID 25194673 2014 Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
PMID 26318770 2015 Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
PMID 24068316 2014 Diversity of the clinical presentation of the MMR gene biallelic mutations.
PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.
PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
PMID 28195393 2017 Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
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 24100870 2013 Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.
PMID 9307272 1997 Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.
PMID 25110875 2015 Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.
PMID 24440087 2014 Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
PMID 12732731 2003 Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.
PMID 22219001 2012 The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer.
PMID 15098177 2004 Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.
PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.
PMID 21155762 2011 Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.
PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis 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 18415027 2008 Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.
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 15236168 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
PMID 18269114 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.
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 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
PMID 28502729 2017 Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.
PMID 27329137 2016 Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
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 22658618 2012 ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
PMID 22081473 2012 Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.
PMID 25111426 2014 Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.
PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
PMID 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
PMID 25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
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 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 19931546 2010 Detection of genetic alterations in hereditary colorectal cancer screening.
PMID 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.
PMID 18550572 2008 Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors.
PMID 15805151 2005 No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.
PMID 25318681 2015 Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.
PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.
PMID 22691310 2012 Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.
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 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 22250089 2012 Human MSH6 deficiency is associated with impaired antibody maturation.
PMID 28481244 2017 Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of 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 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
PMID 27696107 2017 Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
PMID 19072991 2009 Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.
PMID 23621914 2013 CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
PMID 21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
PMID 18409202 2008 Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
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 In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree.
PMID 24434690 2014 Prostate cancer incidence in males with Lynch syndrome.
PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
PMID 10699937 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.
PMID 29212164 2017 Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.
PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
PMID 28176205 2017 Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.
PMID 16885385 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
PMID 10508506 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations.
PMID 21081928 2010 Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.
PMID 11641390 2001 Asymmetric recognition of DNA local distortion. Structure-based functional studies of eukaryotic Msh2-Msh6.
PMID 19659577 2009 DNA base repair--recognition and initiation of catalysis.
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 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
rs1057517541 in
MLH1 gene and
Hereditary Nonpolyposis Colorectal Cancer
PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
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 20937110 2010 Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
PMID 16941473 2006 Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.
PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
PMID 25782445 2015 Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.
PMID 19324997 2009 Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.
PMID 12624141 2003 Cancer risk in 348 French MSH2 or MLH1 gene carriers.
PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
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 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
PMID 15713769 2005 Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
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 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 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 15253764 2004 Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.
PMID 18713544 2008 Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer.
PMID 9218993 1997 Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.
PMID 21681552 2011 Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
PMID 12547705 2003 Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.
PMID 10448273 1999 Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer.
PMID 8521398 1995 Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
PMID 10422993 1999 Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
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 24090359 2013 Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
PMID 16341550 2006 Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
PMID 18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
PMID 16206289 2006 Efficiency of the revised Bethesda guidelines (2003) for the detection of mutations in mismatch repair genes in Austrian HNPCC patients.
PMID 19669161 2010 Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
PMID 9298827 1997 Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.
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 20717847 2011 An intronic mutation in MLH1 associated with familial colon and breast cancer.
PMID 8797773 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
PMID 11524701 2001 The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.
PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
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 15955785 2005 Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.
PMID 16395668 2006 Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
PMID 17348456 2007 Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.
PMID 12183410 2002 Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.
PMID 12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
PMID 11507050 2001 CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer.
PMID 14574010 2001 Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations.
PMID 8776590 1996 DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
PMID 11306449 2001 Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer.
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 17095871 2006 Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany.
PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.
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 15855432 2005 Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
PMID 17054581 2006 Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
PMID 10882759 2000 Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.
PMID 8571956 1996 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
PMID 15786548 2005 Clinicopathological and molecular genetic analysis of HNPCC in China.
PMID 15345113 2004 Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India.
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 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 23712482 2013 Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family.
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 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.
PMID 15475387 2004 Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
PMID 22736432 2012 Comprehensive functional assessment of MLH1 variants of unknown significance.
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 26300997 2015 Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
PMID 16341804 2005 MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.
PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
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 17473388 2007 A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.
PMID 1522200 1992 Secretion of alpha-immunoreactive inhibin by human pre-embryos cultured in vitro.
PMID 17505997 2007 Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.
PMID 10713887 2000 Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.
PMID 26437257 2015 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
PMID 9777949 1998 Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.
PMID 10995807 2000 Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
PMID 11920650 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.
PMID 15996210 2005 Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
PMID 9697702 1998 Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
PMID 8574961 1996 Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
PMID 10037723 1999 The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
PMID 12810663 2003 A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
PMID 10874307 2000 Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.
PMID 11948175 2002 Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.
PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
PMID 12419761 2002 Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review.
PMID 16982745 2006 Mutations from Italian HNPCC families (G224D, G67R, N635S, and K618A) were all ineffective at reversing the phenotype of the MLH1-defective A2780 cells.
PMID 11555625 2001 Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
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 15613555 2004 Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
PMID 19142183 2009 Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
PMID 17440950 2007 Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer.
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 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
PMID 16810763 2006 Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.
PMID 18337503 2008 Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
PMID 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
PMID 16 1975 Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines.
PMID 16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
PMID 17210669 2007 The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
PMID 15864295 2005 Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction.
PMID 19698169 2009 Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
PMID 21387278 2011 Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome.
PMID 9032648 1997 Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
PMID 11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
PMID 26096739 2015 Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.
PMID 14526391 2003 Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.
PMID 18373977 2008 The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations.
PMID 10777691 2000 Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
PMID 23760103 2013 Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
PMID 11585727 2001 A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.
PMID 9377556 1997 Mutations in beta-catenin are uncommon in colorectal cancer occurring in occasional replication error-positive tumors.
PMID 19690142 2009 Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.
PMID 22290698 2012 Classification of mismatch repair gene missense variants with PON-MMR.
PMID 20176959 2010 Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
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 12513688 2003 Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function.
PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
PMID 8993976 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
PMID 9833759 1998 Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
PMID 19459153 2009 High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
PMID 12919140 2003 Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer.
PMID 15300854 2004 RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
PMID 12522551 2003 Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
PMID 12618391 2003 MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiae.
PMID 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
PMID 10732761 2000 Extensive molecular screening for hereditary non-polyposis colorectal cancer.
PMID 11429708 2001 We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients.
PMID 18772310 2008 Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
PMID 12377806 2002 Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants.
PMID 11385712 2001 Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in 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 11781295 2002 The HNPCC-related hMLH1 mutations T117M, V185G, R217C, G244D, R265C, V326A, and K618T, the polymorphisms I219V and R265H, and a hMLH1 splicing variant lacking exon 9 and 10 (hMLH1 Delta 9/10) were cloned.
PMID 11601928 2001 Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.
PMID 11112663 2001 Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.
PMID 19863800 2009 Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.
PMID 20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
PMID 8566964 1996 CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
PMID 18547406 2008 The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
PMID 22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
PMID 20864636 2010 A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
PMID 18726168 2009 Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.
PMID 16830052 2006 Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.
PMID 18470917 2008 Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.
PMID 17135187 2006 Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
PMID 18931482 2008 Mismatch repair gene mutations in Chinese HNPCC patients.
PMID 25871441 2015 Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
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 21901500 2012 Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.
PMID 8880570 1996 Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
PMID 15731775 2005 Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer.
PMID 18618713 2008 Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.
PMID 23640085 2013 Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese Lynch syndrome families.
PMID 11093816 2000 A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer.
PMID 19731080 2010 Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.
PMID 18205192 2008 The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
PMID 16636019 2006 Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.
PMID 11781295 2002 The HNPCC-related hMLH1 mutations T117M, V185G, R217C, G244D, R265C, V326A, and K618T, the polymorphisms I219V and R265H, and a hMLH1 splicing variant lacking exon 9 and 10 (hMLH1 Delta 9/10) were cloned.
PMID 21952876 2012 Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
PMID 10495924 1999 Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1.
PMID 17267619 2007 Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study.
PMID 11606497 2001 The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer.
PMID 11427529 2001 The interaction of DNA mismatch repair proteins with human exonuclease I.
PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
PMID 28640387 2017 DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
PMID 29520894 2018 Evaluation of MLH1 variants of unclear significance.
PMID 14762794 2004 Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.
PMID 15845562 2005 Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.
PMID 24440087 2014 Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
PMID 27629256 2017 Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
PMID 27152634 2016 Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients.
PMID 19697156 2009 Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.
PMID 11920458 2002 Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma.
PMID 7704024 1995 Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.
PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.
PMID 9311737 1997 Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
PMID 15849752 2005 Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred.
PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
PMID 26761715 2016 Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
PMID 16736289 2006 Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients.
PMID 21311894 2011 Lynch syndrome in Tunisia: first description of clinical features and germline mutations.
PMID 14871975 2004 Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer.
PMID 12655568 2003 Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.
PMID 15555211 2004 High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
rs63749906 in
MLH1;EPM2AIP1 gene and
Hereditary Nonpolyposis Colorectal Cancer
PMID 10082584 1999 Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.
PMID 17440981 2007 Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
PMID 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
PMID 8521398 1995 Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
PMID 12810663 2003 A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
PMID 15731775 2005 Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer.
rs1114167806 in
MSH2 gene and
Hereditary Nonpolyposis Colorectal Cancer
PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
PMID 12386821 2002 Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.
PMID 15042510 2004 MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.
PMID 17939062 2008 Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).
PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
PMID 16143124 2005 Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.
PMID 15942939 2005 Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).
PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
PMID 16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
PMID 16203774 2005 High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.
PMID 17250661 2007 Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.
PMID 22781090 2013 A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
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 14729822 2004 Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.
PMID 20459533 2010 Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome.
PMID 20682701 2010 The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.
PMID 18931482 2008 Mismatch repair gene mutations in Chinese HNPCC patients.
PMID 18841495 2009 High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers.
PMID 16395668 2006 Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
PMID 21598002 2011 Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families.
PMID 11879922 2002 Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.
PMID 21879275 2012 Screening for Lynch syndrome in colorectal cancer: are we doing enough?
PMID 8880570 1996 Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
PMID 25194673 2014 Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.
PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
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 19669161 2010 Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
PMID 15955785 2005 Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.
PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
PMID 11809679 2002 A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.
PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
PMID 16810763 2006 Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.
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 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
PMID 17250671 2007 Novel germline and somatic mutations of the MSH2 gene in hereditary non-polyposis colorectal cancer.
PMID 12624141 2003 Cancer risk in 348 French MSH2 or MLH1 gene carriers.
PMID 19047842 2008 Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.
PMID 11601928 2001 Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.
PMID 17720936 2007 Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.
PMID 12875840 2003 Msh2 separation of function mutations confer defects in the initiation steps of mismatch repair.
PMID 28932927 2018 Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.
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 29575718 2018 Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
PMID 31101557 2019 Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer.
PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
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 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
PMID 15713769 2005 Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
PMID 18033691 2008 Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
PMID 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.
PMID 8062247 1994 hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.
PMID 10422993 1999 Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
PMID 8261515 1993 Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
PMID 19267393 2009 Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
PMID 15235030 2004 A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
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 10196371 1999 Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.
PMID 19459153 2009 High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
PMID 19698169 2009 Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
PMID 9052445 1997 Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled.
PMID 11920650 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.
PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
PMID 20215533 2010 Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
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 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
PMID 15855432 2005 Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
PMID 16639607 2006 Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer.
PMID 18415027 2008 Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.
PMID 22166501 2011 Microsatellite instability in saliva from patients with hereditary non-polyposis colon cancer and siblings carrying germline mismatch repair gene mutations.
PMID 21681552 2011 Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
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 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
PMID 18389388 2008 Mutation spectrum in HNPCC in the Israeli population.
PMID 30376427 2019 Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
PMID 11179758 2001 DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.
PMID 10874318 2000 Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC).
PMID 11208710 2001 Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.
PMID 26437257 2015 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
PMID 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
PMID 15235034 2004 Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma.
PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
PMID 17440950 2007 Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer.
PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.
PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
PMID 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
PMID 12112654 2002 Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.
PMID 9774676 1998 Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.
PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
PMID 15680406 2005 Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.
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 17473388 2007 A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.
PMID 14574162 2003 The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours.
PMID 12124176 2002 HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
PMID 18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
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 17348456 2007 Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.
PMID 11772966 2002 Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients.
PMID 8589682 1995 Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas.
PMID 15926618 2005 Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer.
PMID 15235038 2004 Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene 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 11304573 2001 Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer.
PMID 11306449 2001 Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer.
PMID 18550572 2008 Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors.
PMID 8776590 1996 DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal 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 19723918 2009 Germ-line mutations in mismatch repair genes associated with prostate cancer.
PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
PMID 18270343 2008 The frequency of Muir-Torre syndrome among Lynch syndrome families.
PMID 24344984 2013 Mutation spectrum in South American Lynch syndrome families.
PMID 27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.
PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
PMID 11524701 2001 The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.
PMID 12414824 2002 Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation.
PMID 12547705 2003 Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.
PMID 21225464 2011 Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS.
PMID 22739024 2012 The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.
PMID 10080150 1999 Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer.
PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.
PMID 16500024 2006 We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain).
PMID 22290698 2012 Classification of mismatch repair gene missense variants with PON-MMR.
PMID 7726159 1995 Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.
PMID 21387278 2011 Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome.
PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
PMID 16327991 2006 The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.
PMID 17101317 2006 Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
PMID 18951462 2008 Mechanisms of pathogenicity in human MSH2 missense mutants.
PMID 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
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 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 15571801 2004 Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.
PMID 27606285 2016 MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.
PMID 25093288 2014 Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary.
PMID 25110875 2015 Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.
PMID 8566964 1996 CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
PMID 10432927 1999 Microsatellite instability and expression of MLH1 and MSH2 in normal and malignant endometrial and ovarian epithelium in hereditary nonpolyposis colorectal cancer family members.
PMID 10564582 2000 Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer.
PMID 9036882 1997 Low frequency of hMSH2 mutations in Swedish HNPCC families.
PMID 12173039 2002 Genetic and epigenetic modification of mismatch repair genes hMSH2 and hMLH1 in sporadic breast cancer with microsatellite instability.
PMID 18772310 2008 Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
PMID 22371642 2012 Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.
PMID 11291077 2001 MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer.
PMID 9739019 1998 Mutation of the mismatch repair gene hMSH2 and hMSH6 in a human T-cell leukemia line tolerant to methylating agents.
PMID 15655560 2005 hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.
PMID 24474082 2014 Muir-Torre syndrome: case report and molecular characterization.
PMID 18289827 2008 Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation.
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 9087566 1997 MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
PMID 23170986 2013 The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.
PMID 22480969 2012 Simplified identification of Lynch syndrome: a prospective, multicenter study.
PMID 25173403 2015 Mismatch repair deficient-crypts in non-neoplastic colonic mucosa in Lynch syndrome: insights from an illustrative case.
PMID 16175654 2005 Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 28769567 2017 Thyroid cancer in a patient with Lynch syndrome - case report and literature review.
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 26951660 2016 Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
PMID 15929773 2005 In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.
PMID 15845562 2005 Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.
PMID 18674656 2008 A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews.
PMID 22219001 2012 Among Ashkenazi Jewish HNPCC cases, recurring mutations in the MSH2 (1906G>C; A636P) and MSH6 (c.3984_3987dupGTCA; c.3959_3962delCAAG) genes can be detected.
PMID 20850175 2010 The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients.
PMID 21419771 2011 The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%.
PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
PMID 10469597 1999 Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
PMID 8521394 1995 Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.
PMID 10995807 2000 Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
PMID 20176959 2010 Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
PMID 21311894 2011 Lynch syndrome in Tunisia: first description of clinical features and germline mutations.
PMID 18781619 2008 MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.
PMID 8581513 1995 Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients.
PMID 9559627 1998 Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
PMID 9311737 1997 Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
PMID 12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
PMID 24710284 2014 Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.
PMID 23690608 2013 Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.
rs786201042 in
MSH6 gene and
Hereditary Nonpolyposis Colorectal Cancer
PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.
PMID 25318681 2015 We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec.
rs1114167801 in
MSH6;FBXO11 gene and
Hereditary Nonpolyposis Colorectal Cancer
PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
PMID 9819445 1998 Saccharomyces cerevisiae Msh2p and Msh6p ATPase activities are both required during mismatch repair.
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rs121434629 in
PMS2 gene and
Hereditary Nonpolyposis Colorectal Cancer
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PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
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PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
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.
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PMID 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
PMID 28640387 2017 DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
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PMID 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
rs587779333 in
PMS2;AIMP2 gene and
Hereditary Nonpolyposis Colorectal Cancer
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.
PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.
PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 23012243 2013 The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.