Hereditary lung cancer syndrome targets never smokers with germline EGFR gene T790M mutations.

ABSTRACT:

Introduction

Hereditary lung cancer syndromes are rare, and T790M germline mutations of the epidermal growth factor receptor (EGFR) gene predispose to the development of lung cancer. The goal of this study was to determine the clinical features and smoking status of lung cancer cases and unaffected family members with this germline mutation and to estimate its incidence and penetrance.

Methods

We studied a family with germline T790M mutations over five generations (14 individuals) and combined our observations with data obtained from a literature search (15 individuals).

Results

T790M germline mutations occurred in approximately 1% of non-small-cell lung cancer cases and in less than one in 7500 subjects without lung cancer. Both sporadic and germline T790M mutations

SUBMITTER: Gazdar A 

PROVIDER: S-EPMC4509739 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature