title: Higher frequency but random distribution of EGFR mutation subtypes in familial lung cancer patients.
abstract: Despite the advancement of epidermal growth factor receptor (EGFR) inhibitors in lung cancer therapy, it remains unclear whether EGFR mutation status in familial lung cancers is different from that of sporadic cases. In this multicenter retrospective study, we compared both the EGFR mutation frequency and patterns between familial and sporadic cases. The results explored that family history of lung cancer is an independent predictor for higher EGFR mutation rate in 1713 lung adenocarcinoma patients (Odd ratio 1.68, 95% CI 1.06-2.67, P = 0.028). However, the distribution of EGFR mutation subtypes was similar to that of sporadic cases. Part of our study involved 40 lung cancer families with at least 2 tumor tissues available within each single family (n = 88) and there was no familial aggregation pattern in EGFR mutation subtypes. There were two families harboring the YAP1 R331W germline risk allele and EGFR mutation statuses among YAP1 family members also varied. These phenomena may hint at the direction of future research into lung carcinogenesis and EGFR mutagenesis.
authors.affiliation: Institute of Biomedical Sciences, National Chung Hsing University, Taichung, Taiwan.|Division of Critical Care and Respiratory Therapy, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Kuo-Hsuan
authors.initials: KH
authors.lastname: Hsu
authors.affiliation: Division of Chest Medicine, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.|Faculty of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Jeng-Sen
authors.initials: JS
authors.lastname: Tseng
authors.affiliation: Department of Thoracic Medicine, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Chih-Liang
authors.initials: CL
authors.lastname: Wang
authors.affiliation: Division of Chest Medicine, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.|Faculty of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Tsung-Ying
authors.initials: TY
authors.lastname: Yang
authors.affiliation: Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan.|Department of Critical Care Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Chien-Hua
authors.initials: CH
authors.lastname: Tseng
authors.affiliation: Institute of Statistical Science, Academia Sinica, Taipei, Taiwan.|College of Medicine, National Taiwan University, Taipei, Taiwan.|College of Life Science, National Taiwan University, Taipei, Taiwan.
authors.forename: Hsuan-Yu
authors.initials: HY
authors.lastname: Chen
authors.affiliation: Division of Chest Medicine, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Kun-Chieh
authors.initials: KC
authors.lastname: Chen
authors.affiliation: Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.|Institute of Molecular Biology, National Chung Hsing University, Taichung, Taiwan.
authors.forename: Chi-Ren
authors.initials: CR
authors.lastname: Tsai
authors.affiliation: Department of Thoracic Medicine, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|Department of Respiratory Therapy, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Cheng-Ta
authors.initials: CT
authors.lastname: Yang
authors.affiliation: Department of Clinical Laboratory Sciences and Medical Biotechnology, College of Medicine, National Taiwan University, Taipei, Taiwan.|Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan.|Center of Genomic Medicine, National Taiwan University, Taipei, Taiwan.|Department of Pathology and Graduate Institute of Pathology, College of Medicine, National Taiwan University, Taipei, Taiwan.|Center for Optoelectronic Biomedicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Sung-Liang
authors.initials: SL
authors.lastname: Yu
authors.affiliation: Department of Clinical Laboratory Sciences and Medical Biotechnology, College of Medicine, National Taiwan University, Taipei, Taiwan.|Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Kang-Yi
authors.initials: KY
authors.lastname: Su
authors.affiliation: Division of Pulmonary Medicine, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Chong-Jen
authors.initials: CJ
authors.lastname: Yu
authors.affiliation: Division of Pulmonary Medicine, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Chao-Chi
authors.initials: CC
authors.lastname: Ho
authors.affiliation: Department of Internal Medicine, China Medical University Hospital, Taichung, Taiwan.|Department of Respiratory Therapy, China Medical University, Taichung, Taiwan.
authors.forename: Te-Chun
authors.initials: TC
authors.lastname: Hsia
authors.affiliation: Divisions of Medical Oncology and Pulmonary Medicine, Department of Internal Medicine, Chung Shan Medical University Hospital, Taichung, Taiwan.|School of Medicine, Chung Shan Medical University, Taichung, Taiwan.
authors.forename: Ming-Fang
authors.initials: MF
authors.lastname: Wu
authors.affiliation: Division of Chest Medicine, Department of Internal Medicine, Taichung Tzu-Chi Hospital, Taichung, Taiwan.|School of Post-Baccalaureate Chinese Medicine, Tzu Chi University, Hualien, Taiwan.
authors.forename: Kuo-Liang
authors.initials: KL
authors.lastname: Chiu
authors.affiliation: Division of Chest Medicine, Department of Internal Medicine, Taichung Tzu-Chi Hospital, Taichung, Taiwan.
authors.forename: Chien-Ming
authors.initials: CM
authors.lastname: Liu
authors.affiliation: Division of Pulmonary Medicine, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Pan-Chyr
authors.initials: PC
authors.lastname: Yang
authors.affiliation: Institute of Biomedical Sciences, National Chung Hsing University, Taichung, Taiwan.
authors.forename: Jeremy J W
authors.initials: JJ
authors.lastname: Chen
authors.affiliation: Institute of Biomedical Sciences, National Chung Hsing University, Taichung, Taiwan.|Division of Chest Medicine, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.|Faculty of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Gee-Chen
authors.initials: GC
authors.lastname: Chang
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D066246:ErbB Receptors / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006801:Humans; D016015:Logistic Models; D008175:Lung Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies
chemical_list: C512478:EGFR protein, human; D066246:ErbB Receptors
keywords: YAP1; epidermal growth factor receptor (EGFR); familial lung cancer; non-small cell lung cancer