Novel germline mutation: EGFR V843I in patient with multiple lung adenocarcinomas and family members with lung cancer.
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.
Ikeda
Koei
K
Department of Thoracic Surgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Nomori
Hiroaki
H
Mori
Takeshi
T
Sasaki
Jiichiro
J
Kobayashi
Toshiaki
T
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
D066246:ErbB Receptors