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
In a retrospective study of 300 stage IV melanoma patients, patients with BRAF V600K mutation (n=18) were associated with a 5.6% (1/18) complete response, a 22.2% (4/18) partial response and stable disease in 44.4% (8/18) of cases; however, 27.8% (5/18) of patients harboring BRAF V600K experienced progressive disease and patients with BRAF V600E mutation achieved a more impressive clinical benefit, as compared to patients with BRAF V600K mutation (P=0.016).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4180
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/563
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Vemurafenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
25524477
Drugs
Drug NameSensitivitySupported
VemurafenibSensitivitytrue