Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung adenocarcinoma
Source Database
CIViC Evidence
Description
A patient with metastatic lung adenocarcinoma was found to harbor EGFR T790M and S768I mutations when acquired resistance developed after 8 years of erlotinib treatment. Analysis of original tumor samples from 2001 and 2003 were found to also harbor the S768I (but not T790M) mutation. Three-dimensional visualization showed the 768 position to be outside of the erlotinib binding position.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1394
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/562
Rating
3
Evidence Type
Predictive
Disease
Lung Adenocarcinoma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25521405
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue