Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT MUTATION
KIT MUTATION - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) examined the relationship between kinase (KIT and PDGFRA) genotype and treatment outcome for patients enrolled in a randomized phase II trial of imatinib (CSTI571B 2222). Two patients' GISTs harbored KIT exon 13 mutations, and both experienced partial responses to imatinib. The authors conclude that this uncommon variant is sensitive to imatinib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2475
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2643
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 14645423
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Sensitivity | true |