MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 25117503 2014
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082 2014
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients. 24100870 2013
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. 22734033 2012
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. 20591884 2010
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843 2010
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448 2008
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448 2008
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009 2007
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 16807412 2006
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability. 17117178 2006
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? 15837969 2005
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR 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. 15483016 2004
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR 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. 15483016 2004
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR 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. 12658575 2003
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer. 9929971 1999
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Familial endometrial cancer in female carriers of MSH6 germline mutations. 10508506 1999
dbSNP: rs267608078
rs267608078
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AC 0.700 CausalMutation CLINVAR Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. 9307272 1997