Annotation Detail

Information
Associated Genes
XRCC6
Associated Variants
DESI1 c.88+991G>A ( ENST00000263256.7 )
DESI1 c.88+57G>C ( ENST00000263256.7 )
rs132770 ( ENST00000428575.6 )
rs132793
DESI1 c.88+991G>A ( ENST00000263256.7 )
DESI1 c.88+57G>C ( ENST00000263256.7 )
rs132770 ( ENST00000428575.6 )
rs132793
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significant increase in risks of overall cancers, breast cancer, renal cell carcinoma and hepatocellular carcinoma, and it could increase the cancer risk in Asian population; the rs5751129 polymorphism could increase the cancer risk in overall cancers; the rs132770 polymorphism was associated with the increased renal cell carcinoma risk; furthermore, the rs132793 polymorphism could decrease breast cancer risk and increase risks in other cancers.Overall, the results provided evidences that the single nucleotide polymorphisms in XRCC6 promoter region might play different roles in various cancers, indicating different cancers have different tumorigenesis mechanisms.
Pubmed
25569644
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0145495786138132
Year of publication
2015
Drugs