Gene: MSH6

Alternate names for this Gene: GTBP|GTMBP|HNPCC5|HSAP|MMRCS3|p160

Gene Summary: This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: mutS homolog 6

Type of Gene: protein-coding

rs3136247 in MSH6 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs76928871 in MSH6 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs267608026 in MSH6 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 PMID 10480359 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

PMID 14974087 2004 Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

PMID 10521294 1999 Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

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

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

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

PMID 9354786 1997 Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.

PMID 11586295 2001 A role for MLH3 in hereditary nonpolyposis colorectal cancer.

PMID 25318681 2015 Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

rs63750664 in MSH6 gene and Colorectal Carcinoma PMID 11709755 2002 Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.

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

PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.

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 11470537 2001 Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.

PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

PMID 10699937 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.

PMID 12522549 2003 Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

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

PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

rs63750664 in MSH6 gene and Endometrial Carcinoma 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 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

rs786201042 in MSH6 gene and Hereditary Nonpolyposis Colorectal Cancer PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PMID 25318681 2015 We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec.

rs1064794075 in MSH6 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 18269114 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PMID 16885385 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

PMID 17909073 2007 Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.

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

PMID 25318681 2015 Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

rs1553408388 in MSH6 gene and Neoplastic Syndromes, Hereditary PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

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

PMID 17909073 2007 Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.

PMID 16885385 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

PMID 28135145 2017 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

PMID 29485237 2018 Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.

PMID 28125075 2017 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

PMID 25318681 2015 Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.