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
colorectal cancer
Source Database
CIViC Evidence
Description
Case report of a patient with BRAF V600E mutant metastatic colorectal cancer. Combined EGFR and BRAF inhibition (panitumumab and vemurafenib) showed an initial partial response for 4 months with subsequent disease progression.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1589
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/12
Rating
2
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Supports
Drug
Panitumumab,Vemurafenib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
27325282
Drugs
Drug NameSensitivitySupported
PanitumumabSensitivitytrue
VemurafenibSensitivitytrue