EGFRexon 19 in-frame deletion and polymorphisms of DNA repair genes in never-smoking female lung adenocarcinoma patients
Autor: | Yuh Min Chen, Gee-Chen Chang, Chen-Yang Shen, Chi Ren Tsai, Pan-Chyr Yang, Jiun Yi Hsia, Cheng Yen Chuang, Ying-Huang Tsai, Ming Shyan Huang, Chao A. Hsiung, Kun-Chieh Chen, Tsung-Ying Yang, Kuan-Yu Chen, Chien-Jen Chen, Wu Chou Su, Shi Yi Yang, Yao Jen Li, Chih Yi Chen, Kuo-Hsuan Hsu, Chung Ping Hsu, Kuo Meng Liao |
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Rok vydání: | 2012 |
Předmět: |
Adult
Male Cancer Research Lung Neoplasms DNA Repair DNA repair DNA Mutational Analysis Adenocarcinoma of Lung Single-nucleotide polymorphism Adenocarcinoma Biology Polymorphism Single Nucleotide Exon Sex Factors Genotype NAD(P)H Dehydrogenase (Quinone) medicine Humans SNP Alleles Genetic Association Studies Aged Sequence Deletion Aged 80 and over Polymorphism Genetic Smoking Exons Odds ratio Middle Aged medicine.disease DNA-Binding Proteins ErbB Receptors DNA Repair Enzymes Exodeoxyribonucleases Logistic Models MutS Homolog 2 Protein Oncology Cancer research Female ERCC4 |
Zdroj: | International Journal of Cancer. 132:449-458 |
ISSN: | 0020-7136 |
Popis: | 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 polymorphism (SNP) rs1800566C/T located in NQO1 (aOR, 2.2 with 95% CI, 1.0-4.8) in female never-smokers. The SNP rs744154C/G in ERCC4 was also associated with the EGFR exon 19 in-frame deletion both in never-smokers (aOR, 1.7 with 95% CI, 1.0-3.0) and female never-smokers (aOR, 1.9 with 95% CI, 1.0-3.6). Although the association was marginally significant in multivariate logistic regression analysis, the A/A genotype of rs1047840 in EXO1 was associated with a 7.6-fold increase in the occurrence of the EGFR exon 19 in-frame deletion in female never-smokers. Moreover, risk alleles in NQO1, ERCC4 and EXO1 were associated with an increasing aOR of the EGFR exon 19 in-frame deletion both in never-smokers (p = 0.007 for trend) and female never-smokers (p = 0.002 for trend). Our findings suggest that the in-frame deletion in EGFR exon 19 is associated with polymorphisms in DNA repair and detoxification metabolism genes in never-smoking lung adenocarcinoma patients, especially in females. |
Databáze: | OpenAIRE |
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