Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Lys751Gln (p.K751Q)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- The ERCC2 K751Q variant is significantly correlated with increased response to paclitaxel and carboplatin therapies in non small cell lung cancer (NSCLC). The researchers utilized data from three previous clinical trials in Japan and the United States with a total of 526 NSCLC patients.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/677
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1736
- Variant URL
- https://civic.genome.wustl.edu/links/variants/264
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Paclitaxel,Carboplatin
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19470925
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Carboplatin | Sensitivity | true |
| Paclitaxel | Sensitivity | true |