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 insensitivity to regorafenib (IC50: 141nmol/L), imatinib (IC50: 90nmol/L), and sunitinib (IC50: 42nmol/L) treatments. In comparison, sensitizing KIT mutation del550-557 showed IC50 22, 13 and 5 nmol/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/4455
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: Does Not Support
Drug: Regorafenib,Imatinib,Sunitinib
Evidence Level: D
Clinical Significance: Sensitivity/Response
Pubmed: 25239608

Drugs