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
Patients with metastatic cholangiocarcinoma havoring with BRAF V600E was treated with vemurafenib, panitumumab and irinotecan triplet therapy. Multiple lung metastasis was dramatically regressed and this treatment was continued.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5906
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
Vemurafenib,Irinotecan,Panitumumab
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26687137
Drugs
Drug NameSensitivitySupported
VemurafenibSensitivitytrue
PanitumumabSensitivitytrue
IrinotecanSensitivitytrue