Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence and the response to adjuvant therapy among Polish women with breast cancer.
Pubmed
23103366
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0981866054293803
Year of publication
2013
Drugs