Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
- BRAF PAPSS1-BRAF
- Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- BRAF-fusion in "pan-negative" melanomas were identified in TCGA data. Cell-lines with a PAPSS1-BRAF fusion were resistant to treatment with Vemurafenib but sensitive to treatment with Trametinib. This fusion is believed to activate MAPK pathway signaling.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/726
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/286
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Trametinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24345920
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trametinib | Sensitivity | true |