Annotation Detail

Information
Associated Genes
XRCC4
Associated Variants
XRCC4 MUTATION
XRCC4 MUTATION
Associated Disease
Triple Negative Breast Neoplasms
Source Database
DisGeNET
Description
We identified a recessive missense variant, rs3734091 (c.739G>T, p.Ala247Ser), of XRCC4 that was significantly associated with an increased risk of breast cancer (odds ratio [OR] = 3.92, P = 0.007), particularly with the risk of developing triple-negative breast cancer (OR = 18.65, P < 0.0001).
Pubmed
25360583
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs