Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419

2015
dbSNP: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers. 24244552

2013
dbSNP: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype. 21778331

2011
dbSNP: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 19419416

2009
dbSNP: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. 17569143

2007
dbSNP: rs63750086
rs63750086
MSH2
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: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463

1996