Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Arg451Cys (p.R451C) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg451Cys (p.R451C) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
colorectal cancer
Source Database
CIViC Evidence
Description
In this preclinical study on the effects of cetuximab, panitumumab or sym004 on various EGFR mutations in colorectal cancer. The R451C mutation showed moderate drug-receptor binding with sym004, cetuximab and panitumumab treatment and inhibition of EGFR phosphorylation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1081
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/454
Rating
2
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Supports
Drug
Cetuximab,Panitumumab,Futuximab/Modotuximab Mixture
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
26888827
Drugs
Drug NameSensitivitySupported
CetuximabSensitivitytrue
Futuximab/Modotuximab MixtureSensitivitytrue
PanitumumabSensitivitytrue