Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR E746_T751>I
EGFR E746_T751>I
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
Study found somatic EGFR mutations localized to exons 19,21 in 8/9 patients who exhibited a response to Gefitinib treatment. Of these mutations 7/8 were localized near the ATP cleft Gefitinib targets, suggesting a specific gain-of-function mechanism. No EGFR mutations were observed in 7 patients with no response to Gefitinib. An expansion cohort independent of the Gefitinib study showed 2/25 patients harbored EGFR mutations. A second expansion independent of Gefitinib consisting of 95 tumors and 108 cell lines showed no mutations in exons 19,21.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4931
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1765
Rating
4
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Gefitinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
15118073
Drugs
Drug NameSensitivitySupported
GefitinibSensitivitytrue