Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Lys643Glu (p.K643E) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Lys643Glu (p.K643E) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
melanoma
Source Database
CIViC Evidence
Description
In a phase 2 clinical trial of 39 stage 3/4 chemotherapy-naive unresectable melanoma patients, a subungual melanoma patient harboring the KIT K642E mutation was reported to have a partial response to dasatinib monotherapy of 24 weeks with a 56% tumor reduction.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4147
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/978
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Dasatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
21523734
Drugs
Drug NameSensitivitySupported
DasatinibSensitivitytrue