Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
hematologic cancer
Source Database
CIViC Evidence
Description
EGFR L858R mutation has been associated with increased sensitivity to first generation EGFR tyrosine kinase inhibitors, including erlotinib and gefitinib. In an in vitro study using NCI-H3255 cells (EGFR L858R mutation), inhibition of EGFR phosphorylation was used as an assay to determine sensitivity to EGFR tyrosine kinase inhibitors. NCI-H3255 cells demonstrated increased sensitivity to erlotinib (IC50: 8.0-11.0 nmol/L vs 108.0 nmol/L) compared to NCI-H2073 cells (EGFR wild type).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4294
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/33
Evidence Type
Predictive
Disease
Hematologic Cancer
Drug
Cetuximab
Evidence Level
D
Pubmed
24893891
Drugs
Drug NameSensitivitySupported
CetuximabN/Afalse