Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT AMPLIFICATION
(
ENST00000288135.6 )
KIT AMPLIFICATION ( ENST00000288135.6 ) - Associated Disease
- mucosal melanoma
- Source Database
- CIViC Evidence
- Description
- Phase 2 trial in metastatic mucosal, acral or chronically sun-damaged melanoma. Twenty-five patients were enrolled (24 evaluable). Eight patients (33%) had tumors with KIT mutations, 11 (46%) with KIT amplifications, and five (21%) with both. Median follow-up was 10.6 months. Best overall response rate was statistically significantly different by mutation status: 7 of 13 or 54% KIT mutated v 0% KIT amplified only.
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1466
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/586
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Mucosal Melanoma
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 23775962
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |