Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR MUTATION
EGFR MUTATION
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In a study of 1261 non-small cell lung cancer patients, 49.8% of the analyzed tumors had EGFR mutations including deletions in exon 19 (n=258), L858R (n=260), T790M (n=6) and insertions or duplications in exon 20 (n=25). Patients with EGFR deletions in exon 19 or L858R mutations were associated with an improved response to erlotinib or gefitinib with partial or complete response (74.1% vs. 16.5%, P<0.001) when compared to wildtype EGFR patients. Additionally, tumors with EGFR mutations in L858R or deletions in exon 19 were associated with increased overall survival (19.6mo vs. 10.4mo) compared to wildtype (all patients were treated with either erlotinib or gefitinib).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4264
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1466
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
21531810
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue