Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359013
rs80359013
A 0.700 CausalMutation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016

dbSNP: rs80359013
rs80359013
A 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015

dbSNP: rs80359013
rs80359013
C 0.700 CausalMutation CLINVAR An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. 25146914

2014

dbSNP: rs80359013
rs80359013
C 0.700 CausalMutation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013

dbSNP: rs80359013
rs80359013
C 0.700 CausalMutation CLINVAR Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. 21203900

2011

dbSNP: rs80359013
rs80359013
C 0.700 CausalMutation CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011

dbSNP: rs80359013
rs80359013
C 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010

dbSNP: rs80359013
rs80359013
A 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population. 21218378

2010

dbSNP: rs80359013
rs80359013
C 0.700 CausalMutation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR