Skip Navigation LinksHome > April 2014 - Volume 9 - Issue 4 > Germline EGFR T790M Mutation Found in Multiple Members of a...
Journal of Thoracic Oncology:
doi: 10.1097/JTO.0000000000000052
Brief Reports

Germline EGFR T790M Mutation Found in Multiple Members of a Familial Cohort

Yu, Helena A. MD*‖; Arcila, Maria E. MD; Harlan Fleischut, Megan MS; Stadler, Zsofia MD; Ladanyi, Marc MD; Berger, Michael F. PhD; Robson, Mark MD; Riely, Gregory J. MD, PhD*‖

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Abstract

Activating mutations in epidermal growth factor receptor (EGFR) are present in a subset of lung cancers, and predict sensitivity to EGFR tyrosine kinase inhibitors. Acquisition of EGFR T790M is the most common mechanism of resistance to EGFR tyrosine kinase inhibitors and rarely is seen before treatment. Germline EGFR T790M mutations have been reported, although the penetrance and clinical significance of this mutation is unknown. We describe the identification of a patient with an EGFR T790M germline mutation and subsequent germline testing in her unaffected family members. Genetic testing revealed two additional EGFR T790M germline carriers, one of which was subsequently diagnosed with metastatic lung adenocarcinoma.

Copyright © 2014 by the International Association for the Study of Lung Cancer

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