Xcode Life

Gene: MSH2

Alternate names for this Gene: COCA1|FCC1|HNPCC|HNPCC1|LCFS2|MMRCS2|hMSH2

Gene Summary: This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21-p16.3

Description of this Gene: mutS homolog 2

Type of Gene: protein-coding

rs186552003 in MSH2 gene and Alzheimer's Disease

PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs587779973 in MSH2 gene and Colorectal Carcinoma

PMID 15996210 2005 Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.

PMID 12792735 2004 Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.

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 14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.

rs146421227 in MSH2 gene and Colorectal cancer, hereditary nonpolyposis, type 1

PMID 15896463 2005 A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy.

PMID 9419403 1997 Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.

PMID 10829038 2000 Population-based molecular detection of hereditary nonpolyposis colorectal cancer.

PMID 9889267 1999 Functional analysis of human MutSalpha and MutSbeta complexes in yeast.

PMID 9621522 1998 Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers.

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

PMID 10612836 2000 Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.

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

PMID 15046096 2004 Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer.

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

PMID 10573010 2000 Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

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

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 7874129 1994 Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.

PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

PMID 15870828 2005 Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

PMID 12124176 2002 HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.

PMID 18781619 2008 MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

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

PMID 10375096 1999 Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis 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 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

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

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

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

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

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

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

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

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

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

PMID 23329266 2013 Splice site mutations in mismatch repair genes and risk of cancer in the general population.

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

PMID 19267393 2009 Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

PMID 19760518 2009 A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations.

PMID 12352241 2002 Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation.

PMID 16395668 2006 Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 26951660 2016 Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.

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

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

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 21681552 2011 Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

PMID 24344984 2013 Mutation spectrum in South American Lynch syndrome families.

PMID 10874318 2000 Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC).

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

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 7585065 1995 Genetic instability occurs in the majority of young patients with colorectal cancer.

PMID 15680406 2005 Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.

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

PMID 14574162 2003 The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours.

PMID 19731080 2010 Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

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

PMID 8592341 1995 Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.

PMID 14594944 2003 The novel germline mutation of hMSH2 gene in a case of a hereditary non-polyposis colorectal cancer (HNPCC) patient who meets the revised Amsterdam criteria.

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

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

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

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 15955785 2005 Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

PMID 15655560 2005 hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.

PMID 11920650 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.

PMID 12626904 2003 Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer.

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

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

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

PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial 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 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 12537652 2002 Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer.

PMID 17101317 2006 Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.

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

PMID 15991314 2005 Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.

PMID 27606285 2016 MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

PMID 28422960 2017 Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

PMID 23248292 2013 Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2.

PMID 12624141 2003 Cancer risk in 348 French MSH2 or MLH1 gene carriers.

PMID 17720936 2007 Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

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 16175654 2005 Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified.

PMID 19669161 2010 Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

PMID 23604856 2013 Cancer risk in Lynch Syndrome.

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

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 18951462 2008 Mechanisms of pathogenicity in human MSH2 missense mutants.

PMID 15235030 2004 A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

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

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.

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.

rs1060501991 in MSH2 gene and Hereditary Nonpolyposis Colorectal Neoplasms

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

PMID 15849733 2005 Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

PMID 22480969 2012 Simplified identification of Lynch syndrome: a prospective, multicenter study.

PMID 20937110 2010 Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

PMID 19685281 2009 Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.

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

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

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

PMID 11151427 2000 Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations.

PMID 26866578 2016 Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.

PMID 20233461 2004 Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis.

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

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

PMID 19100506 2009 Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer.

PMID 28445943 2017 A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.

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 21681552 2011 Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

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

PMID 15222003 2004 Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.

PMID 8062247 1994 hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.

PMID 16395668 2006 Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

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 10978353 2000 Recurrent germline mutation in MSH2 arises frequently de novo.

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 17939062 2008 Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).

PMID 19723918 2009 Germ-line mutations in mismatch repair genes associated with prostate 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 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

PMID 20388775 2010 Somatic hypermethylation of MSH2 is a frequent event in Lynch Syndrome colorectal cancers.

PMID 15955785 2005 Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary 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 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

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 16142001 2005 Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro.

PMID 12624141 2003 Cancer risk in 348 French MSH2 or MLH1 gene carriers.

PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.

PMID 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

PMID 26248088 2015 Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.

PMID 18931482 2008 Mismatch repair gene mutations in Chinese HNPCC patients.

PMID 19731080 2010 Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

PMID 11606497 2001 The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer.

PMID 23690608 2013 Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

PMID 17189986 2006 Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history.

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 24710284 2014 Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

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

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

PMID 8261515 1993 Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.

PMID 21309037 2011 Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells.

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 22283331 2012 High-resolution melting analyses for gene scanning of APC, MLH1, MSH2, and MSH6 associated with hereditary colorectal cancer.

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

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 17720936 2007 Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

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

PMID 12124176 2002 HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.

PMID 16116158 2005 Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.

PMID 19267393 2009 Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.

PMID 15342696 2004 BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.

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

PMID 26951660 2016 Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

PMID 27606285 2016 MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

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

PMID 21926548 2011 Pancreatic cancer and a novel MSH2 germline alteration.

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 15235030 2004 A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

PMID 19324997 2009 Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

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

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

PMID 20459533 2010 Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome.

PMID 26289772 2016 The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer.

PMID 26437257 2015 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

PMID 11910346 2002 Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry.

PMID 10612836 2000 Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.

PMID 24344984 2013 Mutation spectrum in South American Lynch syndrome families.

PMID 24501230 2014 Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.

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

PMID 7585065 1995 Genetic instability occurs in the majority of young patients with colorectal cancer.

PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

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 15217520 2004 HNPCC: six new pathogenic mutations.

PMID 28577310 2017 Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

PMID 7874129 1994 Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.

PMID 14574162 2003 The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours.

PMID 17505997 2007 Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.

PMID 15680406 2005 Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.

PMID 11772966 2002 Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients.

PMID 8574961 1996 Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.

PMID 9311737 1997 Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

PMID 12414824 2002 Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation.

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

PMID 10874307 2000 Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.

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

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

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

PMID 8592341 1995 Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.

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

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

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 25200962 2014 Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene.

PMID 10404063 1999 Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds.

PMID 15926618 2005 Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer.

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 11304573 2001 Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer.

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 20215533 2010 Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.

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

PMID 18270343 2008 The frequency of Muir-Torre syndrome among Lynch syndrome families.

PMID 21598002 2011 Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families.

PMID 10080150 1999 Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer.

PMID 20010080 2010 Genealogical tree study as screening method in the Lynch syndrome prior to genetic test.

PMID 15075785 2004 Tumour spectrum of non-polyposis colorectal cancer (Lynch syndrome) on the island of Tenerife and influence of insularity on the clinical manifestations.

PMID 21225464 2011 Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome.

PMID 22739024 2012 The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.

PMID 19669601 2009 Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing.

PMID 17601929 2007 Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.

PMID 29967336 2018 Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

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

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

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

PMID 21778331 2011 Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.

PMID 23454724 2013 Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype.

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

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

PMID 25006859 2014 Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.

PMID 11112663 2001 Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.

PMID 11920650 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.

PMID 20872076 2011 Hereditary prostate cancer as a feature of Lynch syndrome.

PMID 16311127 2005 Breast cancer in an MSH2 gene mutation carrier.

PMID 15655560 2005 hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.

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

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

PMID 17101317 2006 Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.

PMID 12626904 2003 Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer.

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

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 24415873 2014 Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

PMID 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP 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 8566964 1996 CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

PMID 15309712 2004 Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma.

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

PMID 9506527 1998 MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer.

PMID 12537652 2002 Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer.

PMID 18781619 2008 MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

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

PMID 18951462 2008 Mechanisms of pathogenicity in human MSH2 missense mutants.

PMID 17473388 2007 A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.

PMID 18289827 2008 Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation.

PMID 12132870 2001 hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.

PMID 27284491 2016 Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

PMID 23170986 2013 The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

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 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 16175654 2005 Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified.

PMID 23729658 2013 UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.

PMID 17348456 2007 Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.

PMID 26485756 2015 Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?

PMID 12454801 2002 The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

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

PMID 21419771 2011 High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.

PMID 19101824 2009 Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

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

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 28790115 2017 MSH2 Loss in Primary Prostate Cancer.

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

PMID 10495924 1999 Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1.

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 26659639 2016 Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

PMID 12660027 2003 Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay.

PMID 11385712 2001 Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer.

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

PMID 9222765 1997 Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.

PMID 21879275 2012 Screening for Lynch syndrome in colorectal cancer: are we doing enough?

PMID 8640829 1996 Genetic heterogeneity and unmapped genes for colorectal cancer.

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

PMID 20223024 2006 Some aspects of molecular diagnostics in Lynch syndrome.

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

PMID 22067334 2011 """Null pattern"" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation."

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

PMID 10469597 1999 Mutator phenotypes of common polymorphisms and missense mutations in MSH2.

PMID 7937795 1994 Genetic instability in human ovarian cancer cell lines.

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

PMID 25133505 2014 The mutational spectrum of Lynch syndrome in cyprus.

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

PMID 9777949 1998 Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.

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

PMID 10995807 2000 Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.

PMID 19697156 2009 Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

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

PMID 15845562 2005 Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.

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

PMID 23523604 2013 Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.

PMID 27628256 2008 Robotic-assisted radical prostatectomy by a single surgeon in Taiwan: experience with the initial 30 cases.

PMID 27629256 2017 Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

PMID 26247049 2015 Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

PMID 7726159 1995 Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.

PMID 1710317 1991 Immunosuppression. Binding by design.

PMID 23443670 2013 The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

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

PMID 20052760 2010 Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.

PMID 25872134 2015 HNPCC-associated pheochromocytoma: expanding the tumor spectrum.

rs1064794155 in MSH2 gene and Neoplastic Syndromes, Hereditary

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

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

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

PMID 15516845 2004 A636P testing in Ashkenazi Jews.

PMID 28874130 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

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

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PMID 10448273 1999 Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer.

PMID 9506527 1998 MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer.

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PMID 15655560 2005 hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.

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PMID 23170986 2013 The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

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PMID 17846840 2007 Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Argentina: report from a referral hospital register.

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

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PMID 11420466 2001 Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesis.

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

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

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PMID 7937795 1994 Genetic instability in human ovarian cancer cell lines.

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PMID 17074586 2006 Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients.

PMID 10077621 1999 Mutator phenotypes of yeast strains heterozygous for mutations in the MSH2 gene.

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PMID 10523644 1999 Separation-of-function mutations in Saccharomyces cerevisiae MSH2 that confer mismatch repair defects but do not affect nonhomologous-tail removal during recombination.

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PMID 15845562 2005 Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.

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PMID 10196371 1999 Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.

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PMID 26247049 2015 Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

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