Gene: MLH1
Alternate names for this Gene: COCA2|FCC2|HNPCC|HNPCC2|MMRCS1|hMLH1
Gene Summary: The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).
Gene is located in Chromosome: 3
Location in Chromosome : 3p22.2
Description of this Gene: mutL homolog 1
Type of Gene: protein-coding
rs267607894 in
MLH1 gene and
Colorectal Carcinoma
PMID 10882759 2000 Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.
PMID 14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
PMID 9032648 1997 Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
PMID 15184898 2004 The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.
PMID 9611074 1998 DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.
PMID 12132870 2001 hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
PMID 12655564 2003 Genetic analysis of familial colorectal cancer in Israeli Arabs.
PMID 18033691 2008 Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
PMID 9087566 1997 MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
PMID 10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.
PMID 15184898 2004 Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim.
PMID 18205192 2008 The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
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.
rs63750971 in
MLH1 gene and
Colorectal cancer, hereditary nonpolyposis, type 1
PMID 14517962 2003 Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families.
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.
rs1057517541 in
MLH1 gene and
Hereditary Nonpolyposis Colorectal Cancer
PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
PMID 14635101 2003 Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
PMID 20937110 2010 Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
PMID 16941473 2006 Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.
PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
PMID 25782445 2015 Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.
PMID 19324997 2009 Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.
PMID 12624141 2003 Cancer risk in 348 French MSH2 or MLH1 gene carriers.
PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
PMID 12658575 2003 Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
PMID 15713769 2005 Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
PMID 15849733 2005 Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 19267393 2009 Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
PMID 19224586 2009 Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.
PMID 15253764 2004 Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.
PMID 18713544 2008 Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer.
PMID 9218993 1997 Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.
PMID 21681552 2011 Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
PMID 12547705 2003 Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.
PMID 10448273 1999 Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer.
PMID 8521398 1995 Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
PMID 10422993 1999 Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
PMID 17192056 2006 The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
PMID 24090359 2013 Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
PMID 16341550 2006 Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
PMID 18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
PMID 16206289 2006 Efficiency of the revised Bethesda guidelines (2003) for the detection of mutations in mismatch repair genes in Austrian HNPCC patients.
PMID 19669161 2010 Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
PMID 9298827 1997 Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.
PMID 16216036 2005 Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.
PMID 20717847 2011 An intronic mutation in MLH1 associated with familial colon and breast cancer.
PMID 8797773 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
PMID 11524701 2001 The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.
PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
PMID 26895986 2016 Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
PMID 15955785 2005 Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.
PMID 16395668 2006 Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
PMID 17348456 2007 Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.
PMID 12183410 2002 Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.
PMID 12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
PMID 11507050 2001 CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer.
PMID 14574010 2001 Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations.
PMID 8776590 1996 DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
PMID 11306449 2001 Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer.
PMID 21868491 2012 Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.
PMID 17095871 2006 Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany.
PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.
PMID 22949379 2013 A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
PMID 15855432 2005 Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
PMID 17054581 2006 Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
PMID 10882759 2000 Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.
PMID 8571956 1996 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
PMID 15786548 2005 Clinicopathological and molecular genetic analysis of HNPCC in China.
PMID 15345113 2004 Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India.
PMID 21404117 2011 Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
PMID 10323887 1999 Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer.
PMID 24802709 2014 A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
PMID 23712482 2013 Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family.
PMID 28874130 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
PMID 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.
PMID 15475387 2004 Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
PMID 22736432 2012 Comprehensive functional assessment of MLH1 variants of unknown significance.
PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
PMID 26300997 2015 Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
PMID 16341804 2005 MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.
PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
PMID 16181381 2005 Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes.
PMID 17473388 2007 A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.
PMID 1522200 1992 Secretion of alpha-immunoreactive inhibin by human pre-embryos cultured in vitro.
PMID 17505997 2007 Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.
PMID 10713887 2000 Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.
PMID 26437257 2015 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
PMID 9777949 1998 Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.
PMID 10995807 2000 Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
PMID 11920650 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.
PMID 15996210 2005 Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
PMID 9697702 1998 Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
PMID 8574961 1996 Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
PMID 10037723 1999 The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
PMID 12810663 2003 A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
PMID 10874307 2000 Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.
PMID 11948175 2002 Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.
PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
PMID 12419761 2002 Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review.
PMID 16982745 2006 Mutations from Italian HNPCC families (G224D, G67R, N635S, and K618A) were all ineffective at reversing the phenotype of the MLH1-defective A2780 cells.
PMID 11555625 2001 Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
PMID 15613555 2004 Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
PMID 19142183 2009 Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
PMID 17440950 2007 Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer.
PMID 15563510 2005 Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
PMID 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
PMID 16810763 2006 Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.
PMID 18337503 2008 Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
PMID 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
PMID 16 1975 Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines.
PMID 16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
PMID 17210669 2007 The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
PMID 15864295 2005 Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction.
PMID 19698169 2009 Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
PMID 21387278 2011 Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome.
PMID 9032648 1997 Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
PMID 11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
PMID 26096739 2015 Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.
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rs1057517541 in
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rs1305605404 in
MLH1 gene and
Neoplastic Syndromes, Hereditary
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PMID 22034109 2012 Evidence for breast cancer as an integral part of Lynch syndrome.
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 9806477 1998 The impact of molecular diagnosis on familial colorectal cancer.
PMID 8566964 1996 CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
PMID 25077178 2014 Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
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 22691310 2012 Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.
PMID 27535758 2016 Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer.
PMID 8776590 1996 DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
PMID 16724012 2006 Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.
PMID 15139004 2004 HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
PMID 18547406 2008 The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
PMID 8863153 1996 Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 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 18618713 2008 Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.
PMID 16830052 2006 Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.
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 15926618 2005 Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer.
PMID 20682701 2010 The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.
PMID 14699485 2004 The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC.
PMID 28445943 2017 A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
PMID 14512394 2003 Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.
PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
PMID 29238914 2018 Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Biliary Tract Cancers Associated with Lynch Syndrome.
PMID 10995807 2000 Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
PMID 17267619 2007 Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study.
PMID 19697156 2009 Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.
PMID 24440087 2014 Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
PMID 27152634 2016 Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients.
PMID 11139242 2001 Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.
PMID 14762794 2004 Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.
PMID 11748856 2001 Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.
PMID 15235038 2004 Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.
PMID 26202870 2015 Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.
PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.
PMID 10323887 1999 Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer.
PMID 7704024 1995 Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.
PMID 8145827 1994 Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
PMID 25107687 2014 MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.
PMID 19423266 2009 A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas.
PMID 25927356 2015 Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.
PMID 18094436 2007 Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer.
PMID 24333619 2014 Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.
PMID 24689082 2014 A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
PMID 18389388 2008 Mutation spectrum in HNPCC in the Israeli population.
PMID 28135145 2017 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
PMID 26666765 2016 Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis.
PMID 11112663 2001 Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.
PMID 16636019 2006 Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.
PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
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 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
PMID 15300854 2004 RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
PMID 15849752 2005 Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred.
PMID 21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
PMID 20045164 2010 Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers.
PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
PMID 21247423 2011 Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.
PMID 15923275 2006 Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.
PMID 12362032 2002 Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer.
PMID 23896635 2014 Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case.
PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
PMID 20223024 2006 Some aspects of molecular diagnostics in Lynch syndrome.
PMID 11151427 2000 Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations.
PMID 24456667 2014 Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1.
PMID 26300997 2015 Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
PMID 15555211 2004 High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer.
PMID 19731080 2010 Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.
PMID 23435383 2013 Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.
PMID 25477341 2015 Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
PMID 21286823 2011 Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.
PMID 14985405 2004 A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.
PMID 25389437 2014 Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome.
rs63750610 in
MLH1 gene and
Torre-Muir 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 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
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 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
PMID 21404117 2011 Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
PMID 20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
PMID 22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
rs63750610 in
MLH1 gene and
Turcot syndrome (disorder)
PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
PMID 21404117 2011 Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
PMID 20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
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 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 22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.