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
Adenocarcinoma of lung, stage IV
Source Database
DisGeNET
Description
Genetic testing revealed two additional EGFR T790M germline carriers, one of which was subsequently diagnosed with metastatic lung adenocarcinoma.
Pubmed
24736080
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00461451182536516
Year of publication
2015
Drugs