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
cholangiocarcinoma
Source Database
CIViC Evidence
Description
Two cases of patients with BRAF V600E positive cholangiocarcinoma showed excellent response for Dabrafenib and Trametinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5903
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/12
Rating
3
Evidence Type
Predictive
Disease
Cholangiocarcinoma
Evidence Direction
Supports
Drug
Trametinib Dimethyl Sulfoxide,Dabrafenib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
28078132
Drugs
Drug NameSensitivitySupported
DabrafenibSensitivitytrue
Trametinib Dimethyl SulfoxideSensitivitytrue