Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT P551_E554delPMYE
KIT P551_E554delPMYE - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT P551_E554delPMYE primary activating mutation demonstrated sensitivity to ponatinib treatment (IC50: 15nM). IC50 was determined by assessing cell viability.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4125
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1497
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Ponatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25239608
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Ponatinib | Sensitivity | true |