Condition: Hereditary Non-Polyposis Colon Cancer Type 2


rs267607706 in EPM2AIP1;MLH1 gene and Hereditary Non-Polyposis Colon Cancer Type 2 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 9326924 1997 A human compound heterozygote for two MLH1 missense mutations.

PMID 9833759 1998 Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.

PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.

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

PMID 20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

PMID 8993976 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

PMID 8797773 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean 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 11726306 2001 Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

PMID 8571956 1996 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

PMID 10375096 1999 Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.

PMID 11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.

PMID 10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.

PMID 11839723 2002 Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

PMID 10627141 1998 Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.

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

PMID 11793442 2002 Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

PMID 11748856 2001 Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

rs1057517541 in MLH1 gene and Hereditary Non-Polyposis Colon Cancer Type 2 PMID 26248088 2015 Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.

PMID 11726306 2001 Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

PMID 11839723 2002 Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

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

PMID 11748856 2001 Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

PMID 8571956 1996 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.

PMID 10627141 1998 Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.

PMID 11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.

PMID 10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.

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

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 8993976 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

PMID 8797773 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.

PMID 20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

PMID 11793442 2002 Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon 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 9833759 1998 Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.

PMID 9326924 1997 A human compound heterozygote for two MLH1 missense mutations.

PMID 10375096 1999 Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.

PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

PMID 25711197 2015 Lynch Syndrome: A Primer for Urologists and Panel Recommendations.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 23408351 2013 Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 23535968 2013 Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25070057 2014 Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.

PMID 25003300 2014 Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.

PMID 22167527 2012 Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

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

PMID 11598466 2001 Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 25452455 2015 Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

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

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 23640085 2013 Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese Lynch syndrome families.

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 21671475 2012 An American founder mutation in MLH1.

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 12070261 2002 Mismatch repair gene analysis in Catalonian families with colorectal cancer.

PMID 24278394 2013 Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

PMID 11208710 2001 Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.

PMID 20034658 2010 Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening.

PMID 25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

PMID 12183410 2002 Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.

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

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

PMID 22776989 2012 Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.

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

PMID 18337503 2008 Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.

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

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

PMID 15563510 2005 Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.

PMID 15864295 2005 hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair.

PMID 10037723 1999 The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.

PMID 8880570 1996 Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.

PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

PMID 18033691 2008 Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

PMID 17210669 2007 The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

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 19459153 2009 High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

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

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 15713769 2005 Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

PMID 17569143 2007 Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.

PMID 15765394 2005 HNPCC-associated small bowel cancer: clinical and molecular characteristics.

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

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

PMID 15926618 2005 Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with 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 21952876 2012 Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.

PMID 12386821 2002 Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.

PMID 17135187 2006 Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.

PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

PMID 18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

PMID 11555625 2001 Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.

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

PMID 19698169 2009 Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

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

PMID 10480359 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

PMID 14512394 2003 Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis 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 26053027 2015 Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.

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

PMID 12891553 2003 Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.

PMID 16288214 2006 Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer?

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

PMID 22736432 2012 Comprehensive functional assessment of MLH1 variants of unknown significance.

PMID 22290698 2012 Classification of mismatch repair gene missense variants with PON-MMR.

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 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

PMID 16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

PMID 11139242 2001 Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.

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

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

PMID 9927033 1999 Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

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

PMID 16341550 2006 Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

PMID 8808596 1996 RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.

PMID 19690142 2009 Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

PMID 15300854 2004 RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

rs367654552 in MLH1;EPM2AIP1 gene and Hereditary Non-Polyposis Colon Cancer Type 2 PMID 11748856 2001 Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

PMID 9833759 1998 Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.

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 11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.

PMID 9326924 1997 A human compound heterozygote for two MLH1 missense mutations.

PMID 11793442 2002 Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon 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 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

PMID 10375096 1999 Influence of selection criteria on mutation detection in patients with 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 10627141 1998 Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.

PMID 11839723 2002 Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

PMID 8571956 1996 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

PMID 8993976 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

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

PMID 20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

PMID 8797773 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.

PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

PMID 11726306 2001 Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

PMID 10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.

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

PMID 21840485 2011 Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.

PMID 24084575 2014 The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

PMID 26888055 2016 Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.

PMID 22878509 2013 Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PMID 25711197 2015 Lynch Syndrome: A Primer for Urologists and Panel Recommendations.

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 25452455 2015 Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 25070057 2014 Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.

PMID 25003300 2014 Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 23408351 2013 Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

PMID 11598466 2001 Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.

PMID 22167527 2012 Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

PMID 23535968 2013 Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.

rs587783053 in MSH2 gene and Hereditary Non-Polyposis Colon Cancer Type 2 PMID 16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

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

PMID 9774676 1998 Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.

PMID 18822302 2008 Functional analysis of HNPCC-related missense mutations in MSH2.

PMID 23604856 2013 Cancer risk in Lynch Syndrome.

PMID 15943554 2005 Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.

PMID 19659756 2009 Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications.

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

PMID 18559331 2008 Concise handbook of familial cancer susceptibility syndromes - second edition.