Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
The XRCC1 R399Q variant was significantly correlated with higher overall survival in non-small cell lung carcinoma (NSCLC) patients treated with gemcitabine and platinum. 62 patients with either Stage IIIB or Stage IV NSCLC were used for this study.
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/672
Gene URL
https://civic.genome.wustl.edu/links/genes/6144
Variant URL
https://civic.genome.wustl.edu/links/variants/261
Rating
4
Evidence Type
Prognostic
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Better Outcome
Pubmed
22551904
Drugs