Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Arg415Gln (p.R415Q)
(
ENST00000311895.8,
ENST00000682617.1 )
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- To investigate whether monoallelic ERCC4 gene defects play some role in the inherited component of breast cancer susceptibility, we sequenced the whole ERCC4 coding region and flanking untranslated portions in a series of 101 Byelorussian and German breast cancer patients selected for familial disease (set 1, n = 63) or for the presence of the rs1800067 risk haplotype (set 2, n = 38).
- Pubmed
- 24465539
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00352874433704394
- Year of publication
- 2013
Drugs