Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359200
rs80359200
BRCA2
G 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs80359200
rs80359200
BRCA2
G 0.700 CausalMutation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015
dbSNP: rs80359200
rs80359200
BRCA2
G 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014
dbSNP: rs80359200
rs80359200
BRCA2
A 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France. 15887246

2005
dbSNP: rs80359200
rs80359200
BRCA2
G 0.700 CausalMutation CLINVAR Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. 16234499

2005
dbSNP: rs80359200
rs80359200
BRCA2
G 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Scotland and Northern Ireland. 12698193

2003
dbSNP: rs80359200
rs80359200
BRCA2
A 0.700 CausalMutation CLINVAR Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. 9667259

1998