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
Patients were treated with a specific RAF inhibitor (dabrafenib), which improved overall survival of patients with BRAF mutations (P<0.003), compared to non-treated patients with BRAF mutations. Patients having BRAF mutations were associated with reduced overall survival (11.1 mo vs. 46.1 mo for wild-type, P=0.006). BRAF mutations were more frequent in tumors with superficially spreading histological sub-type (43% vs. 19% , P<0.001) compared to BRAF wild-type tumors.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2505
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
Dabrafenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
21343559
Drugs
Drug NameSensitivitySupported
DabrafenibSensitivitytrue