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
- cervical cancer
- Source Database
- CIViC Evidence
- Description
- The XRCC1 R399Q variant was correlated with increased response to platinum-based neoadjuvant chemotherapy in patients with cervical cancer. Tumor samples from 36 patients with Stage IB or IIA bulky (greater than 4 cm in size) cervical carcinomas were used in this study.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/673
- Gene URL
- https://civic.genome.wustl.edu/links/genes/6144
- Variant URL
- https://civic.genome.wustl.edu/links/variants/261
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Cervical Cancer
- Evidence Direction
- Supports
- Drug
- Carboplatin,Cisplatin
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 16875718
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Carboplatin | Sensitivity | true |
| Cisplatin | Sensitivity | true |