Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Glu746_Ala750del (p.E746_A750del) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Glu746_Ala750del (p.E746_A750del) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
bronchiolo-alveolar adenocarcinoma
Source Database
CIViC Evidence
Description
EGFR exons 18-24 were analyzed in 7 patients who had shown a partial response to erlotinib in a phase II trial for bronchioloalveolar carcinoma (BAC, or in situ pulmonary adenocarcinoma). One patient (Patient E2) had the E746_A750del mutation. The patient was a male never smoker, and demonstrated response for 8.5 months. Overall survival was 21+ months as the patient was alive at study end.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2513
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1002
Rating
3
Evidence Type
Predictive
Disease
Bronchiolo-alveolar Adenocarcinoma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
15329413
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue