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
Chemotherapy-refractory, metastatic cholangiocarcinoma with BRAF V600E showed dramatically response for Dabrafenib and Trametinib combination.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5902
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
28480077
Drugs
Drug NameSensitivitySupported
DabrafenibSensitivitytrue
Trametinib Dimethyl SulfoxideSensitivitytrue