MSH6, mutS homolog 6, 2956

N. diseases: 29; N. variants: 619
Disease: Hereditary Nonpolyposis Colorectal Cancer ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CTD_human Lynch syndrome is primarily caused by mutations in the MMR genes, mainly MLH1 and MSH2, and less frequently in MSH6, and rarely PMS2, and large genomic rearrangements account for 5-20 % of all mutations. 25701956 2015
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 GermlineCausalMutation disease ORPHANET Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. 25318681 2015
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 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: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734 2008
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN Six of the families that we studied fulfilled the original Amsterdam criteria; most families with MSH6, however, were only suspected to have HNPCC. 11709755 2002
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CTD_human A role for MLH3 in hereditary nonpolyposis colorectal cancer. 11586295 2001
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 11245474 2001
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN Four presumably causative MSH6 mutations were detected in the patients (22%) who had suspected HNPCC and MSI-low tumors. 10521294 1999
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN This may explain the rarity of MSH6 and absence of MSH3 germline mutations in HNPCC families. 10545954 1999
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556 1997
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CTD_human Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. 7604265 1995
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.800 Biomarker disease CLINGEN Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 7604264 1995