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ORIGINAL ARTICLE Hereditary Lung Cancer Syndrome Targets Never Smokers with Germline EGFR Gene T790M Mutations Adi Gazdar, MD,*† Linda Robinson, MS,‡ Dwight Oliver, MD,† Chao Xing, PhD,§ William D. Travis, MD,║ Junichi Soh, MD,¶ Shinichi Toyooka, MD,¶ Lori Watumull, MD,# Yang Xie, PhD,** Kemp Kernstine, MD,†† and Joan H. Schiller, MD‡‡ preliminary estimate of 31% risk for lung cancer in never smoker Introduction: Hereditary lung cancer syndromes are rare, and carriers, and this risk may be lower for heavy smokers. The resultant T790M germline mutations of the epidermal growth factor recep- cancers share several features and differences with lung cancers con- tor (EGFR) gene predispose to the development of lung cancer. The taining sporadic EGFR mutations. goal of this study was to determine the clinical features and smoking status of lung cancer cases and unaffected family members with this Key Words: EGFR gene, Germline mutation, Hereditary lung cancer germline mutation and to estimate its incidence and penetrance. syndrome, Never smoker status, T790M mutation. Methods: We studied a family with germline T790M mutations over (J Thorac Oncol. 2014;9: 456–463) 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 ung carcinomas that initially respond to
Journal of Thoracic Oncology – Wolters Kluwer Health
Published: Apr 1, 2014
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