EGFR exon 19 in-frame deletion and polymorphisms of DNA repair genes in never-smoking female lung adenocarcinoma patients Shi-Yi Yang 1,2 *, Tsung-Ying Yang 3,4 *, Yao-Jen Li 1,2 *, Kun-Chieh Chen 3,5 , Kuo-Meng Liao 6 , Kuo-Hsuan Hsu 3 , Chi-Ren Tsai 7,8 , Chih-Yi Chen 9,10 , Chung-Ping Hsu 11,12 , Jiun-Yi Hsia 12 , Cheng-Yen Chuang 3,12 , Ying-Huang Tsai 13 , Kuan-Yu Chen 14 , Ming-Shyan Huang 15 , Wu-Chou Su 16 , Yuh-Min Chen 11,17 , Chao A. Hsiung 18 , Chen-Yang Shen 19,20,21,22 , Gee-Chen Chang 3,5,10,11 , Pan-Chyr Yang 14 and Chien-Jen Chen 1,2 1 Genomics Research Center, Academia Sinica, Taiwan 2 Graduate Institute of Epidemiology, College of Public Health, National Taiwan University, Taipei, Taiwan 3 Division of Chest Medicine, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan 4 Institute of Medical and Molecular Toxicology, Chung Shan Medical University, Taichung, Taiwan 5 Institute of Biomedical Sciences, National Chung-Hsing University, Taichung, Taiwan 6 Zhongxiao Branch, Taipei City Hospital, Taipei, Taiwan 7 Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan 8 Institute of Molecular Biology, National Chung-Hsing University, Taichung, Taiwan 9 Cancer Center, China Medical University Hospital, Taichung, Taiwan 10 School of Medicine, China Medical University, Taichung, Taiwan 11 Department of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan 12 Division of Thoracic Surgery, Department of Surgery, Taichung Veterans General Hospital, Taichung, Taiwan 13 Department of Pulmonary and Critical Care, Chang Gung Memorial Hospital, Lincou, Taiwan 14 Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan 15 Department of Internal Medicine, Kaohsiung Medical University Hospital and Faculty of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan 16 Department of Internal Medicine, National Cheng Kung University Hospital and College of Medicine, Tainan, Taiwan 17 Chest Department, Taipei Veterans General Hospital, Taipei, Taiwan 18 Division of Biostatistics and Bioinformatics, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Taiwan 19 Institute of Biomedical Sciences, Academia Sinica, Taiwan 20 Taiwan Biobank, Academia Sinica, Taiwan 21 Life Science Library, Academia Sinica, Taiwan 22 Graduate Institute of Environmental Science, China Medical University, Taichung, Taiwan We explored potential associations between genetic polymorphisms in genes related to DNA repair and detoxification metabolism and epidermal growth factor receptor (EGFR) mutations in a cohort of 410 never-smoking patients with lung adenocarcinoma. Multivariate-adjusted odds ratios (aORs) and corresponding 95% confidence intervals (CI) of EGFR mutation status in association with the genotypes of DNA repair and detoxification metabolism genes were evaluated using logistic regression analysis. We found an association between in-frame deletion in EGFR exon 19 and a single nucleotide Key words: EGFR mutation, polymorphisms, DNA repair and detoxification-related metabolism, never-smokers, lung adenocarcinoma Abbreviations: aOR: adjusted odds ratio; BER, NER: base- and nucleotide-excision repair; CI: confidence intervals; EGFR: epidermal growth factor receptor; GELAC: Genetic Epidemiological Study of Lung Adenocarcinoma; JIRB: joint institutional review board; L858R: lysine for arginine mutation at amino acid position 858; MMR: mismatch repair; TCVGH: Taichung Veterans General Hospital; SNPs: single nucleotide polymorphisms Additional Supporting Information may be found in the online version of this article. *Shi-Yi Yang, Tsung-Ying Yang and Yao-Jen Li contributed equally to this work Grant sponsors: Department of Health, Executive Yuan, and Academia Sinica, Taipei, Taiwan; Grant number: DOH96-TD-G-111-012 DOI: 10.1002/ijc.27630 History: Received 5 Dec 2011; Accepted 23 Apr 2012; Online 10 May 2012 Correspondence to: Gee-Chen Chang, Department of Medicine, School of Medicine, National Yang-Ming University, Taipei and No. 155, Section 2, Linong Street, 112 Taipei, Taiwan; Division of Chest Medicine and Department of Internal Medicine, Taichung Veterans General Hospital, No. 160, Section 3, Chung-Kang Rd, Taichung 40705, Taiwan, Tel.: þ886-4-23592525 Ext. 3256, Fax: þ886-4-23552590, E-mail: august@vghtc.gov.tw or Chien-Jen Chen, Genomics Research Center, Academia Sinica, No. 128, Section 2, Academia Rd, Nankang, Taipei 11529, Taiwan, E-mail: chencj@gate.sinica.edu.tw Epidemiology Int. J. Cancer: 132, 449–458 (2013) V C 2012 UICC International Journal of Cancer IJC