Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Cys557Ser (p.C557S)
(
ENST00000421162.2,
ENST00000260947.9,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Cys557Tyr (p.C557Y) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys557Ser (p.C557S) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys557Tyr (p.C557Y) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- Malignant neoplasm of ovary
- Source Database
- DisGeNET
- Description
- The frequency of the BARD1 Cys557Ser variant seemed to increase among patients from families with breast or ovarian cancer lacking BRCA1 or BRCA2 mutations: a significant difference was obtained compared with controls (6.8% v 2.7%; p<0.001; odds ratio (OR) 2.6; 95% confidence interval (CI) 1.7 to 4.0) and with patients from BRCA1/BRCA2 mutation-positive families (6.8% v 2.2%; p = 0.01; OR 3.2; 95% CI 1.2 to 8.3).
- Pubmed
- 16825437
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00725298567604749
- Year of publication
- 2006
Drugs