Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Lys806Glu (p.K806E) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Lys806Glu (p.K806E) ( ENST00000450046.2, ENST00000275493.7, ENST00000455089.5 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In a study, 1 participant with stage IIIB lung adenocarcinoma was sequenced at EGFR exons 18 to 21 and was found to have K806E mutation, and was treated with the 1st generation TKI gefitinib. The patient (M, 77, nonsmoker) had progressive disease as response, progression free survival (PFS) of 1.6 months, overall survival (OS) of 28.1 months and was alive at study end. As a whole, patients with uncommon EGFR mutations had a response rate of 47.5%, which was between common (del19 and L858R) at 74.1%, and wild type EGFR at 16.5%. Median PFS and OS (months) for the three groups: 5.0 and 15.0 uncommon, 8.5 and 19.6 common, 2.0 and 10.4 wild type.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4239
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1895
Rating
2
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Does Not Support
Drug
Gefitinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
21531810
Drugs
Drug NameSensitivitySupported
GefitinibSensitivityfalse