Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Val640Lys (p.V640K)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Val640Lys (p.V640K) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- In a clinical trial (NCT01597908) of 704 metastatic melanoma patients, patients harboring a BRAF V600K mutation and treated with vemurafenib (n=34) were associated with a 44% response rate, as compared to a 65% response rate in V600E mutation positive patients treated with dabrafenib and trametinib combination therapy (n=34).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4181
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/563
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Skin Melanoma
- Evidence Direction
- Supports
- Drug
- Dabrafenib,Trametinib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25399551
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Dabrafenib | Sensitivity | true |
| Trametinib | Sensitivity | true |