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 cohort of NSCLC patients treated with tyrosine kinase inhibitors erlotinib or gefitinib, 61 patients with uncommon mutations of unknown clinical significance (UMUCS) in EGFR exons 18-21 responded at a rate of 47.5% (primarily G719 and L861, N=30/61). This was significantly greater (p<0.001) than a response rate of 16.5% in EGFR wild type patients but significantly smaller (p<0.001) than a 74.1% response in EGFR mutant patients with canonical exon 19 deletion or L858R mutation. Uncommon mutations also had greater median PFS (5.0 vs. 2.0 months, P < 0.001) and median overall survival (15.0 vs. 10.4 months, P = 0.030) than in patients with the wild-type EGFR.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4755
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1863
Rating
4
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Erlotinib,Gefitinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
21531810
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue
GefitinibSensitivitytrue