Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Ser768_Asp770dup (p.S768_D770dup) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Ser768_Asp770dup (p.S768_D770dup) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In an in vitro study, a Ba/F3 cell line expressing EGFR D770_N771insSVD demonstrated reduced sensitivity to erlotinib treatment (IC50=3.187�M), comparable to Ba/F3 cells expressing EGFR L858R and T790M co-mutation (T790M is a known resistant mutation to 1st and 2nd generation EGFR tyrosine kinase inhibitors; IC50=4.155�M). Resistance was determined by assessing cell proliferation, EGFR, AKT and ERK phosphorylation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4275
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1445
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
D
Clinical Significance
Resistance
Pubmed
24353160
Drugs
Drug NameSensitivitySupported
ErlotinibResitance or Non-Reponsetrue