Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Glu746_Ala750del (p.E746_A750del) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Glu746_Ala750del (p.E746_A750del) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
Mutational profiling was performed on EGFR exons 18-24 from a group of 10 retrospectively chosen patients who had shown partial response or clinical improvement in response to gefitinib. Of 7 tumors with EGFR mutations, 4 were del E746-A750. 3 had adenocarcinoma with bronchioloalveolar carcinoma (BAC) features, with response duration and overall survival of 8 and 15 months, 5+ and 5+ months (treatment ongoing at study end) and 28 and 30+ months (alive at study end), and one former smoker with adenocarcinoma with BAC features, who had response duration of 5+ months with treatment ongoing at study end.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4198
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1002
Rating
4
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Gefitinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
15329413
Drugs
Drug NameSensitivitySupported
GefitinibSensitivitytrue