Annotation Detail
Information
- Associated Genes
- ERCC5
- Associated Variants
-
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H)
(
ENST00000652613.1,
ENST00000652225.2,
ENST00000639435.1,
ENST00000639132.1 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Of the 6 ERCC variants examined, only ERCC5 rs17655 showed a borderline main effect association with breast cancer risk (OR(GC) = 1.1, OR(CC) = 1.3; p-trend = 0.08), with some indication that individuals carrying the C allele variant were more susceptible to the effects of occupational radiation (EOR/Gy(GG) = 1.0, 95% CI = <0, 6.0; EOR/Gy(GC/CC) = 5.9, 95% CI = 0.9, 14.4; p(het) = 0.10).
- Pubmed
- 18767034
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0187407588268566
- Year of publication
- 2008
Drugs