Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR EXON 19 DELETION ( ENST00000275493.7 )
EGFR EXON 19 DELETION ( ENST00000275493.7 )
Associated Disease
lung adenocarcinoma
Source Database
CIViC Evidence
Description
In a phase 3 clinical trial of Korean, never-smoker, lung adenocarcinoma patients, a subset of patients with EGFR mutations (n=42) treated with gefitinib were associated with improved overall response rate compared to gemcitabine plus cisplatin treatment (84.6%, 22/26, vs. 37.5%, 6/16, P=0.002). By contrast, in EGFR mutation negative cases, the response rate was much lower (25.9%, 7/27). The frequency of mutation in exon 19 deletion and L858R was 64.3% (27/42) and 36.4% (16/42), respectively. Exon 19 and L858R mutations were mutually exclusive in this cohort.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2519
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/133
Rating
3
Evidence Type
Predictive
Disease
Lung Adenocarcinoma
Evidence Direction
Supports
Drug
Gefitinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
22370314
Drugs
Drug NameSensitivitySupported
GefitinibSensitivitytrue