Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Asn823Lys (p.N823K) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Asn823Lys (p.N823K) ( ENST00000687246.1, ENST00000686011.1, ENST00000687109.1, ENST00000288135.6, ENST00000412167.7, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients refractory to at least imatinib and sunitinib. One patient whose GIST harbored KIT N882K did not experienced disease progression for >7 months following treatment by regorafenib. Immunoblotting of matched pre- and post- treatment GIST biopsies from this patient demonstrated decreased levels of KIT phosphorylation in response to regorafenib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4595
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/1403
Rating
2
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Regorafenib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
22614970
Drugs
Drug NameSensitivitySupported
RegorafenibSensitivitytrue