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Human Cancer Biology |
1 Laboratories of Population Genetics and 2 Human Carcinogenesis, Center for Cancer Research; 3 Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland; 4 Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota; and 5 Armed Forces Institute of Pathology, Washington, District of Columbia
Requests for reprints: Jin Jen, Laboratory of Population Genetics, Room D702, 41 Library Drive, Bethesda, MD 20892. Phone: 301-435-8958; Fax: 301-435-8963; E-mail: jenj{at}mail.nih.gov.
We evaluated somatic genetic alterations in the kinase domain of the EGFR gene in the tumors of 219 non–small cell lung cancer patients of primarily Caucasian and African American origins. We identified 26 patients (12%) whose tumors had a mutation in the EGFR gene, and 11 (5%) patients carried novel genomic variations consistent with germ-line polymorphisms. All but one mutation were identified in Caucasian patients affected with adenocarcinoma. EGFR mutations were more frequent in women and in nonsmokers, but a significant portion of the affected patients were men (12 of 26) and current or past smokers accounted for half of the patients affected (13 of 26). Screening subjects with EGFR mutations may identify patients whose tumors could respond to targeted therapy using tyrosine kinase inhibitors.
Key Words: Race • Gender • Smoking • Adenocarcinoma • Polymorphism
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