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

Overview

Journal J Thorac Oncol

Publisher Elsevier

Specialties Oncology
Pulmonary Medicine

Date 2014 Apr 17

PMID 24736080

Citations 35

Authors

Helena A Yu

Maria E Arcila

Megan Harlan Fleischut

Zsofia Stadler

Marc Ladanyi

Michael F Berger

Mark Robson

Gregory J Riely

Affiliations

Soon will be listed here.

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.

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