Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
XRCC1 p.Arg280Pro (p.R280P)
(
ENST00000262887.10,
ENST00000543982.5 )
XRCC1 p.Arg280His (p.R280H) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280Pro (p.R280P) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280His (p.R280H) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3-34, P<0.001).
- Pubmed
- 21427728
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2011
Drugs