Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Gly506Val (p.G506V) ( ENST00000288602.11, ENST00000646891.2, ENST00000496384.7, ENST00000644969.2 )
BRAF p.Gly506Val (p.G506V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
colorectal cancer
Source Database
CIViC Evidence
Description
In the study with a tumor from a patient with metastatic colorectal cancer BRAF (G466V) and wild-type RAS and NF1. Treament with Panitumumab and irinotecan cause tumor regression. And in tumor cells of patient-derived xenograft generated from this patient, ERK signaling was sensitive to cetuximab and resistant to vemurafenib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7552
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/2222
Rating
3
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Supports
Drug
Panitumumab,Irinotecan
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
28783719
Drugs
Drug NameSensitivitySupported
IrinotecanSensitivitytrue
PanitumumabSensitivitytrue