MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Disease: Lynch Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Increasing recognition of the statistical burden posed by HNPCC (5 to 6 percent of all colorectal cancer) mandates that physicians have a better understanding of the genetics, natural history, and distinction between the hereditary site-specific variant (Lynch syndrome I) and the Cancer Family Syndrome (Lynch syndrome II). 3366037 1988
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 7604264 1995
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. 7604265 1995
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556 1997
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. 10521294 1999
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. 10545954 1999
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 11245474 2001
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human A role for MLH3 in hereditary nonpolyposis colorectal cancer. 11586295 2001
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. 11709755 2002
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease BEFREE Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer. 15872200 2005
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease BEFREE These MSH6 families, despite their late age of onset, have a high lifetime risk of all Lynch syndrome-related cancers, significantly higher in women (89% by age 80) than in men (69%). 16283884 2005
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Families suspected of Lynch syndrome (n = 614) were analysed for microsatellite instability, MLH1 promoter methylation and/or germline mutations in MLH1, MSH2, MSH6, and PMS2. 17453009 2007
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease BEFREE Heterozygous germline mutations in mismatch repair (MMR) genes MLH1, PMS2, MSH2, and MSH6 cause Lynch syndrome. 17851451 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Most recently, MYH-associated polyposis (MAP) and an "atypical Lynch syndrome" related to the presence of MSH6 mutations have been linked to an increased risk of CRC. 17920897 2007
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch syndrome is primarily due to germline mutations in one of the DNA MMR genes; mainly hMLH1 or hMSH2 and less frequently hMSH6 and rarely hPMS2. 17942460 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1. 18176851 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2. 18270343 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human Lack of DNA mismatch repair protein MSH6 in the rat results in hereditary non-polyposis colorectal cancer-like tumorigenesis. 18417481 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE The aim of the present study was to evaluate the contribution of MSH6 gene mutations in families that were analysed for Lynch syndrome in a diagnostic setting. 18625694 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease BEFREE It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. 19132747 2009
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease BEFREE Using a multimodal approach, we have identified mutations in MLH1, MSH2, and MSH6 in French Canadian families fulfilling the Amsterdam criteria for Lynch syndrome and who displayed abnormal staining for at least one of the Lynch syndrome proteins. 19459153 2009