MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
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: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394 2013
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Hereditary prostate cancer as a feature of Lynch syndrome. 20872076 2011
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. 20215533 2010
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. 19698169 2009
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Breast cancer in an MSH2 gene mutation carrier. 16311127 2005
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769 2005
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733 2005
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. 15655560 2005
dbSNP: rs63750393
rs63750393
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. 11920650 2002