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
Phase 1b study of vemurafenib, cetuximab and irinotecan in 19 patients with colorectal cancer (1 with appendiceal cancer). Six of 17 evaluable patients achieved an objective response, 15 patients total had either stable disease or radiographic response (the patient with appendiceal cancer had disease progression). Estimated median PFS was 7.7 months. Effect of the combined treatment was also observed in xenograft and cell line studies.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1902
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/12
Rating
4
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Supports
Drug
Irinotecan,Cetuximab,Vemurafenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
27729313
Drugs
Drug NameSensitivitySupported
CetuximabSensitivitytrue
IrinotecanSensitivitytrue
VemurafenibSensitivitytrue