Annotation Detail

Information

Associated Genes: KIT
Associated Variants: KIT p.Pro552_Lys559del (p.P552_K559del) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Pro552_Lys559del (p.P552_K559del) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease: gastrointestinal stromal tumor
Source Database: CIViC Evidence
Description: In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT K550_W557del primary activating mutation demonstrated sensitivity to imatinib (IC50: 13nmol/L), sunitinib (IC50: 5nmol/L), regorafenib (IC50: 22nmol/L), and ponatinib (IC50: 3nmol/L) treatments. IC50 was determined by assessing cell viability.
Variant Origin: somatic
Variant Origin: Somatic
Evidence URL: https://civic.genome.wustl.edu/links/evidence_items/4583
Gene URL: https://civic.genome.wustl.edu/links/genes/29
Variant URL: https://civic.genome.wustl.edu/links/variants/948
Rating: 4
Evidence Type: Predictive
Disease: Gastrointestinal Stromal Tumor
Evidence Direction: Supports
Drug: Sunitinib,Regorafenib,Ponatinib,Imatinib
Evidence Level: D
Clinical Significance: Sensitivity/Response
Pubmed: 25239608

Drugs