Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 c.1238-1492T>C
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000485403.6,
ENST00000684407.1 )
XPA c.284-514G>A ( ENST00000375128.5 )
XPA c.-4A>G ( ENST00000375128.5 )
XPA c.-4A>C ( ENST00000375128.5 )
ERCC2 c.1238-1492T>C ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
XPA c.284-514G>A ( ENST00000375128.5 )
XPA c.-4A>G ( ENST00000375128.5 )
XPA c.-4A>C ( ENST00000375128.5 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T allele in rs50872 carriers was also associated with additive risk effect of BC (odds ratios: 2.58, 2.62, and 3.49, respectively).
- Pubmed
- 21751184
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0081432561624091
- Year of publication
- 2012
Drugs