Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Ala763_Tyr764insPheGlnGluAla (p.A763_Y764insFQEA) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Ala763_Tyr764insPheGlnGluAla (p.A763_Y764insFQEA) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In an in vitro study, Ba/F3 and BID007 cell lines expressing EGFR A763_Y764insFQEA demonstrated increased sensitivity to erlotinib treatment (IC50=0.048�M and 0.082�M, respectively), comparable to Ba/F3 and NCI-H3255 cells expressing EGFR L858R (a known sensitizing mutation to EGFR tyrosine kinase inhibitors; IC50=0.006�M and 0.068�M, respectively). Sensitivity was determined by assessing cell proliferation, EGFR, AKT and ERK phosphorylation, levels of BIM (a marker of EGFR TKI-induced cell killing) and cell viability.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4497
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1515
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24353160
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue