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 tested for mutation in EGFR exons 18-21 a subset had uncommon mutations of unknown clinical significance (UMUCS). The most commonly occurring UMUCS were G719 and L861 mutations. Among patients that had UMUCS but not G719 or L861, the response rate to tyrosine kinase inhibitors erlotinib or gefitinib, progression free survival, and overall survival were 20%, 1.6 month and 11.1 months, which was similar for wild type EGFR (16.5%, 2.0 months and 10.4 months), which contrasted to higher response for more commonly occurring G719 and L861 mutations (53.3% and 60.0%, respectively).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4762
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1863
Rating
2
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Does Not Support
Drug
Erlotinib,Gefitinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
21531810
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivityfalse
GefitinibSensitivityfalse