Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 p.Arg194Trp (p.R194W)
(
ENST00000262887.10,
ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- The XRCC1 R194W variant was shown to be correlated with increased chance of response to platinum-based chemotherapy in Stage IV Non-small Cell Lung Carcinoma (NSCLC). 82 patients with Stage IV NSCLC who had not previously been treated with chemotherapy were used in this study.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/659
- Gene URL
- https://civic.genome.wustl.edu/links/genes/6144
- Variant URL
- https://civic.genome.wustl.edu/links/variants/249
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Gemcitabine,Vinorelbine,Docetaxel
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19157633
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Docetaxel | Sensitivity | true |
| Gemcitabine | Sensitivity | true |
| Vinorelbine | Sensitivity | true |