Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357629
rs80357629
BRCA1
GT 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028

2014
dbSNP: rs80357629
rs80357629
BRCA1
GT 0.700 CausalMutation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593

2011
dbSNP: rs80357629
rs80357629
BRCA1
GT 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: rs80357629
rs80357629
BRCA1
GT 0.700 CausalMutation CLINVAR Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells. 12400015

2002
dbSNP: rs80357629
rs80357629
BRCA1
GT 0.700 CausalMutation CLINVAR BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. 11739404

2001
dbSNP: rs80357629
rs80357629
BRCA1
GT 0.700 CausalMutation CLINVAR Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. 10811118

2000
dbSNP: rs80357629
rs80357629
BRCA1
GT 0.700 CausalMutation CLINVAR Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493

1994