Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT EXON 11 MUTATION
KIT EXON 11 MUTATION - Associated Disease
- malignant anus melanoma
- Source Database
- CIViC Evidence
- Description
- In a case study, a patient with anal melanoma harboring a 7 codon duplication in the juxtamambrane region (exon 11) of KIT showed marked response 4 months after imatinib treatment.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/302
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/67
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Malignant Anus Melanoma
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 18421059
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Sensitivity | true |