Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT V560_L576DEL
KIT V560_L576DEL - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- In the patient-derived cell line GIST430 harboring KIT V560_L576del primary activating mutation implanted in mice, imatinib and ponatinib were shown to reduce KIT phosphorylation compared to the vehicle. In GIST430 cell lines, ponatinib and imatinib reduced phospho-AKT and phospho-ERK levels. A cell line derived from GIST430 patients expressing KIT V560_L576del primary mutation demonstrated sensitivity to imatinib (IC50: 61nmol/L) and ponatinib (IC50: 12nmol/L) treatments. In comparison, the insensitve KIT-independent GIST226 cell line showed IC50 >5000nmol/L and 2807nmol/L for these drugs respectively. IC50 was determined by assessing cell viability.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7393
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1550
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Does Not Support
- Drug
- Imatinib,Ponatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25239608