Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR MUTATION
EGFR MUTATION
Associated Disease
lung cancer
Source Database
CIViC Evidence
Description
In a study of 52 patients with recurrent lung cancer, 27 individuals had EGFR mutation including 2 point mutations in exon 18 (G719A and G1719C), 23 deletions in exon 19, two insertions in exon 19 (I744KIPVAI), on mutation in exon 20 (S768I), and 16 point mutations in exon 21 (L858R and E709H). Patients were treated with the epidermal growth factor receptor tyrosine kinase inhibitor gefitinib, and tumors harboring an EGFR mutation had an increased frequency of partial response (PR) and a lower rate of progressive disease (PD) (PR:22, PD:2 vs. PR:2, PD:17; P<0.0001) compared to wildtype EGFR patients. Patients with KRAS mutations also had a longer overall survival compared to wildtype EGFR patients (HR:2.526, 95% CI:1.314-4.858, P=0.0055).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2939
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/442
Rating
2
Evidence Type
Predictive
Disease
Lung Cancer
Evidence Direction
Supports
Drug
Gefitinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
17409929
Drugs
Drug NameSensitivitySupported
GefitinibSensitivitytrue