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
Dabrafenib and trametinib combination showed durable response for patients with standard chemotherapy refractory cholangiocarcinoma havoring BRAF V600E.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5904
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
Dabrafenib,Trametinib Dimethyl Sulfoxide
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25435907
Drugs
Drug NameSensitivitySupported
DabrafenibSensitivitytrue
Trametinib Dimethyl SulfoxideSensitivitytrue