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 study of 322 advanced melanoma patients with BRAF-V600E or BRAF-V600K mutations, treatment with trametinib was associated with improved progression-free survival (4.8mo vs. 1.5mo, <0.001) compared to chemotherapy control group. Additionally, treatment with trametinib was associated with increased 6-month overall survival (HR:0.54, 95% CI:0.32-0.92, P=0.01).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2135
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
Trametinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
22663011
Drugs
Drug NameSensitivitySupported
TrametinibSensitivitytrue