Annotation Detail

Information
Associated Genes
XRCC2
Associated Variants
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000555836.5, ENST00000554280.5, ENST00000557450.5, ENST00000348520.10, ENST00000554913.5, ENST00000553264.5, ENST00000555055.6, ENST00000352127.11, ENST00000334553.11, ENST00000554974.5, ENST00000452929.6 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and Arg188His polymorphism of XRCC2 can be independent markers of breast cancer risk in Pakistan.
Pubmed
25556451
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0362002531634325
Year of publication
2015
Drugs