Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Small cell carcinoma of lung
Source Database
DisGeNET
Description
EGFR T790M secondary mutation, MET gene amplification, and transformation to small cell lung cancer are well-validated mechanisms that underlie acquisition of resistance to EGFR-TKIs.
Pubmed
24939008
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.136587748761891
Year of publication
2014
Drugs