Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Asp634Gly (p.D634G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Asp634Gly (p.D634G) ( ENST00000646891.2, ENST00000496384.7, ENST00000644969.2, ENST00000288602.11 )
Associated Disease
colorectal cancer
Source Database
CIViC Evidence
Description
Two patients with stage IV BRAF (D594G) mutations received anti-EGFR antibody therapy (cetuximab and panitumumab). The first patient was on FOLFOX plus bevacizumab and showed no signs of progression for 10 months. No response was observed after cetuximab was given as a third line therapy. The second patient received panitumumab with FOLFOX and showed no signs of progression for 8 months with reduction of the size of metastases.
Rating
1
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1554
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/611
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Does Not Support
Drug
Panitumumab,Cetuximab
Evidence Level
C
Clinical Significance
Resistance
Pubmed
27404270
Drugs
Drug NameSensitivitySupported
CetuximabResitance or Non-Reponsefalse
PanitumumabResitance or Non-Reponsefalse