Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Val640Asp (p.V640D)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Val640Asp (p.V640D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- In a retrospective study from 20 institutes in 4 countries, the efficacy of BRAF inhibitor and/or MEK inhibitor in patients with melanoma harboring BRAF nonV600E/K mutations were evaluated. Treated with BRAF inhibitor monotherapy, response rate were 27%(4/15) for V600R, 100%(2/2) for V600D, 0% (0/2) for V600_K601>E, 0% (0/1) for V600G, 0% (0/1) for V600L, 0% (0/1) for V600_S602>DT, 0% (0/5) for L597, 0% (0/6) for K601E, 0% (0/2) for G469, 0% (0/1) for G593D,and 0% (0/1) for T599_V600insT Treated with MEK inhibitor monotherapy, response rate were 100% (1/1) for L597, and 0% (0/1) for K601E. Treated with BRAF inhibitor and MEK inhibitor combination thearpy, response rate were 55% (16/29) for V600R, 67% (2/3) for V600D, 50% (1/2) for V600_K601>E, 50% (1/2) for V600M, 22% (2/9) for L597,25% (1/4) for K601E, 67% (2/3) for G469, and 0% (0/1) for A598V.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7629
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/11
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- BRAF Inhibitor,Mitogen-Activated Protein Kinase Kinase Inhibitor
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 31580757
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| BRAF Inhibitor | Sensitivity | true |
| Mitogen-Activated Protein Kinase Kinase Inhibitor | Sensitivity | true |