Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
- BRAF ZKSCAN1-BRAF
- Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- Analysis of BRAF fusions in 20,573 tumors, across 12 distinct tumor types. BRAF fusions were identified in 55 (0.3%) patients and enriched in spitzoid melanoma, pilocytic astrocytomas, pancreatic acinar and papillary thyroid cancers. Clinical data were available for two patients. Among them one 46-year old woman with spitzoid melanoma that harbored a ZKSCAN1-BRAF fusion responded to treatment with the MEK inhibitor trametinib. Subcutaneous tumor nodules exhibited clinical responses within 14 days of therapy, and her dominant bulky right lung metastases showed significant response by Day 45. Subsequent robotic-assisted lobectomy was able to remove the previously unresectable tumor with clean surgical margins.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1663
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/657
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Trametinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26314551
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trametinib | Sensitivity | true |