Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Val561Asp (p.V561D)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Val561Asp (p.V561D) ( 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
- Patient 72 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 V560D mutation. Following failure of imatinib, the GIST was again genotyped, but no secondary mutations were found. The patient took 50 mg sunitinib per day on a treatment schedule of four weeks on/two weeks off. The patient experienced progressive disease. Time to progression and overall survival were 9 and 33 weeks.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4122
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/971
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Sunitinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 18955458
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sunitinib | Resitance or Non-Reponse | true |