This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Lee, K.-M. Articles by Kang, D. Search for Related Content PubMed PubMed Citation Articles by Lee, K.-M. Articles by Kang, D.

Genetic Polymorphisms of Ataxia Telangiectasia Mutated and Breast Cancer Risk

Departments of ¹ Preventive Medicine and ² Surgery, Cancer Research Institute, College of Medicine, ³ Graduate School of Public Health, Seoul National University, Seoul, Korea; ⁴ Department of Surgery, Ulsan University College of Medicine, Seoul, Korea; ⁵ Department of Preventive Medicine, Kon-Kuk University College of Medicine, Chungcheongbuk-Do, Korea; ⁶ Department of Obstetrics and Gynecology, Ewha Womans University College of Medicine, Seoul, Korea; ⁷ Microbiology and Genetic Engineering, College of Natural Science, Ulsan University, Ulsan, Korea; and Department of ⁸ Epidemiology-189, The University of Texas, M.D. Anderson Cancer Center, Houston, Texas

Requests for reprints: Daehee Kang, Department of Preventive Medicine, Seoul National University College of Medicine, 28 Yongon-Dong Chongno-Gu, Seoul 110-799, Korea. Tel: 822-740-8326; Fax: 822-747-4830. E-mail: dhkang{at}snu.ac.kr

To evaluate the role of genetic polymorphisms of ataxia telangiectasia mutated (ATM) in the etiology of breast cancer, a hospital-based case-control study was conducted in Korea. Nine-hundred ninety-six histologically confirmed incident breast cancer cases and 1,181 cancer-free controls were recruited in Seoul between 1995 and 2003. Genotypes of the ATM polymorphisms-5144A>T, IVS21+1049T>C, IVS33–55T>C, IVS34+60G>A, and 3393T>G were determined by the 5'-nuclease assay. Individual haplotypes were estimated from genotype data by a Bayesian method. Five ATM alleles were found to be in strong linkage disequilibrium (D' > 0.82; P < 0.001). Haplotype frequencies were significantly different between cases and controls (² test, P < 0.001). The ATM IVS21+1049 TC or CC, IVS34+60 GA or AA, and 3393 TG or GG genotypes were associated with increased breast cancer risk, particularly in premenopausal women [odds ratios (OR), 1.51; 95% confidence interval (CI), 1.11-2.05; OR, 1.42; 95% CI, 1.08-1.88; and OR, 1.37; 95% CI, 1.04-1.80, respectively]. Compared with diploid of TCCAG:TCCAG, the most common haplotype, the ATTGT:ATTGT was associated with decreased risk of breast cancer with borderline significance (OR, 0.77; 95% CI, 0.58-1.04) and TCCAG:ATCGT and ATTGT:ACCAG were associated with increased breast cancer risk (OR, 2.30; 95% CI, 1.18-4.48 and OR, 2.43; 95% CI, 1.1.07-5.52, respectively) after adjusting for age, education, age at first full-term pregnancy, parity, family history of breast cancer, alcohol consumption, and smoking. As the number of ATTGT haplotype decreased, the risk of breast cancer increased (P for trend <0.01). Our results thus suggest that genetic polymorphisms of ATM play an important role in the development of breast cancer in Korean women.

This article has been cited by other articles:

				H.-M. Hsu, H.-C. Wang, S.-T. Chen, G.-C. Hsu, C.-Y. Shen, and J.-C. Yu Breast Cancer Risk Is Associated with the Genes Encoding the DNA Double-Strand Break Repair Mre11/Rad50/Nbs1 Complex Cancer Epidemiol. Biomarkers Prev., October 1, 2007; 16(10): 2024 - 2032. [Abstract] [Full Text] [PDF]

				The Breast Cancer Association Consortium Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst, October 4, 2006; 98(19): 1382 - 1396. [Abstract] [Full Text] [PDF]

				Z. Hu, M. Shao, J. Yuan, L. Xu, F. Wang, Y. Wang, W. Yuan, J. Qian, H. Ma, Y. Wang, et al. Polymorphisms in DNA damage binding protein 2 (DDB2) and susceptibility of primary lung cancer in the Chinese: a case-control study Carcinogenesis, July 1, 2006; 27(7): 1475 - 1480. [Abstract] [Full Text] [PDF]

				J. H. Kim, H. Kim, K. Y. Lee, K.-H. Choe, J.-S. Ryu, H. I. Yoon, S. W. Sung, K.-Y. Yoo, and Y.-C. Hong Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk Hum. Mol. Genet., April 1, 2006; 15(7): 1181 - 1186. [Abstract] [Full Text] [PDF]