title: Novel germline mutation: EGFR V843I in patient with multiple lung adenocarcinomas and family members with lung cancer.
abstract: A novel germline transmission of the epidermal growth factor receptor (EGFR) mutation V843I in a family with multiple members with lung cancer is reported. The proband was a 70-year-old woman with multiple adenocarcinomas who exhibited secondary EGFR mutations, either L858R or L861Q, in the specimens of resected tumors, in addition to a germline EGFR V843I mutation. These observations suggest that the germline EGFR V843I mutation might have altered EGFR signaling in the multicentric development of adenocarcinoma, bronchoalveolar carcinoma, and atypical adenomatous hyperplasia and also might have had a role in the development of lung cancer in multiple members of her family.
authors: Department of Thoracic Surgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
authors: Koei
authors: K
authors: Ikeda
authors: Hiroaki
authors: H
authors: Nomori
authors: Takeshi
authors: T
authors: Mori
authors: Jiichiro
authors: J
authors: Sasaki
authors: Toshiaki
authors: T
authors: Kobayashi
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000368:Aged; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009361:Neoplasm Invasiveness / Q000473:pathology*; D009367:Neoplasm Staging; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010375:Pedigree; D011013:Pneumonectomy / Q000379:methods; D013908:Thoracotomy / Q000379:methods; D016896:Treatment Outcome
chemical_list: D066246:ErbB Receptors