Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Asp634Ala (p.D634A)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Asp634Ala (p.D634A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- Preclinical study in melanoma cell lines. Inactivity of BRAF as mediated by specific mutation (D594A, D594V or K483M) or selective pharmacological inhibition leads to MEK hyperactivation through CRAF binding in NRAS mutant D04 cells. Either pan-RAF (e.g. sorafenib in the abscence of CRAF T421N gatekeeper mutation) or MEK inhibitors (e.g., trametinib) could instead block ERK pathway hyperactivation in RAS mutated cancers.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1454
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/579
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Skin Melanoma
- Evidence Direction
- Supports
- Drug
- Sorafenib,Mitogen-Activated Protein Kinase Kinase Inhibitor
- Evidence Level
- E
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 20141835
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Mitogen-Activated Protein Kinase Kinase Inhibitor | Sensitivity | true |
| Sorafenib | Sensitivity | true |