Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In a phase 3 clinical trial of non-small cell lung cancer (NSCLC) patients, a subset of patients with EGFR mutations (n=44) treated with gefitinib were associated with improved progression free survival (HR: 0.16, 95% CI: 0.05-0.49, P=0.001), and a higher objective response rate (ORR: 42.1% vs 21.1%, p=0.04) compared to patients treated with docetaxel. Of the 44 patients, 22 had an exon 19 deletion, 16 had an L858R mutation, one patient had an exon 20 T790M mutation, two had an exon G719A mutation and four had other mutations.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2621
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/33
Rating
4
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Gefitinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
20038723
Drugs
Drug NameSensitivitySupported
GefitinibSensitivitytrue