rs587779139, MSH2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation BEFREE The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families. 30968502 2019
Hereditary Nonpolyposis Colorectal Cancer
0.710 CausalMutation CLINVAR
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer. 26289772 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer. 26289772 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries. 22321913 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. 21681552 2011
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. 21681552 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer. 17440950 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene. 15222003 2004
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene. 15222003 2004
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry. 11910346 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836 2000
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836 2000
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
0.010 GeneticVariation BEFREE The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families. 30968502 2019