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
- osteosarcoma
- Source Database
- CIViC Evidence
- Description
- The ERCC2 K751Q variant was significantly correlated with a lower response to cisplatin chemotherapy in osteosarcoma patients and shorter event-free survival. 91 osteosarcoma patients with a median age of 15 years were followed in this study.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/676
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1736
- Variant URL
- https://civic.genome.wustl.edu/links/variants/264
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Osteosarcoma
- Evidence Direction
- Supports
- Drug
- Cisplatin
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 19434073
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cisplatin | Resitance or Non-Reponse | true |