Somatic activating mutations in EGFR identify a subset of non-small cell lung cancer that respond to tyrosine kinase inhibitors. Acquisition of drug resistance is linked to a specific secondary somatic mutation, EGFR T790M. Here we describe a family with multiple cases of non-small cell lung cancer associated with germline transmission of this mutation. Four of six tumors analyzed showed a secondary somatic activating EGFR mutation, arising in cis with the germline EGFR mutation T790M. These observations implicate altered EGFR signaling in genetic susceptibility to lung cancer.
Pubmed ID: 16258541 RIS Download
Mesh terms: Antineoplastic Agents | Carcinoma, Non-Small-Cell Lung | Drug Resistance, Neoplasm | Female | Genetic Predisposition to Disease | Germ-Line Mutation | Humans | Lung Neoplasms | Male | Methionine | Middle Aged | Pedigree | Protein Kinase Inhibitors | Protein-Tyrosine Kinases | Receptor, Epidermal Growth Factor | Threonine
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