Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Lys551_Val560del (p.K551_V560del) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Lys551_Val560del (p.K551_V560del) ( ENST00000689994.1, ENST00000690543.1, ENST00000692783.1, ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1 )
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
Patient 78 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) KIT K550_V559 deletion. Following failure of imatinib, the GIST was again genotyped, but no secondary mutations were found. The patient started on 50mg sunitinib on a schedule of two weeks on/one weeks off. This patient experienced partial response; time to progression and overall survival were censored at 54 weeks and 84 weeks (Table A1).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7289
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/2696
Rating
2
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Does Not Support
Drug
Sunitinib
Evidence Level
C
Clinical Significance
Resistance
Pubmed
18955458
Drugs
Drug NameSensitivitySupported
SunitinibResitance or Non-Reponsefalse