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
melanoma
Source Database
CIViC Evidence
Description
Adjuvant dual treatment with BRAF inhibitor dabrafenib and MEK inhibitor trametinib was administered to patients with stage III resected melenoma with V600E or V600K mutation in this stage III trial (COMBO-AD, NCT01682083). 78 (9%) patients had V600K, and were administered dabrafenib and trametinib or placebo for 12 months. In subsequent analysis, relapse or death occurred in 16/41 patients (39%) in the treatment group and 19/37 patients (51%) in the placebo group for a 95% CI Hazard Ratio of 0.54 (0.27-1.06).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6179
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/563
Rating
4
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Trametinib,Dabrafenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
28891408
Drugs
Drug NameSensitivitySupported
DabrafenibSensitivitytrue
TrametinibSensitivitytrue