Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
colorectal cancer
Source Database
CIViC Evidence
Description
Whole genome sequencing of a case of colon carcinoma revealed a G724S mutation in the EGFR gene. In-vitro, this mutation was shown to be oncogenic and sensitive to Cetuximab, yet relatively insensitive towards small molecules. The same in-vitro results could be reproduced for the G719S mutation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/787
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/134
Rating
4
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Supports
Drug
Cetuximab
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24894453
Drugs
Drug NameSensitivitySupported
CetuximabSensitivitytrue