Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
melanoma
Source Database
CIViC Evidence
Description
In a clinical study of Polish, stage IIIC/IV, melanoma patients with metastases (n=75) harboring BRAF V600 mutation (as detected by cobas 4800 BRAF V600 Mutation Test), patients were associated with a 61.9% (95% CI: 50.1-73.6) median overall survival, a 7.4 months (95% CI: 5.5-9.2) median progression free survival; a median duration response of 7.4 months was reported, with 3% (2/75) and 43% (29/75) of patients achieving a complete and partial response, respectively.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/3755
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/12
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Vemurafenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
26557775
Drugs
Drug NameSensitivitySupported
VemurafenibSensitivitytrue