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Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk

Cited 40 time in Web of Science Cited 46 time in Scopus
Authors
Lee, Kyoung-Mu; Choi, Ji-Yeob; Park, Sue Kyung; Chung, Hye-Won; Ahn, Byungchan; Yoo, Keun-Young; Han, Wonshik; Noh, Dong-Young; Ahn, Sei-Hyun; Kim, Ho; Wei, Qingyi; Kang, Daehee
Issue Date
2005-04-13
Publisher
American Association for Cancer Research
Citation
Cancer Epidemiol Biomarkers Prev. 2005 Apr;14(4):821-5.
Keywords
Bayes TheoremBreast Neoplasms/*etiology/geneticsCase-Control StudiesCell Cycle Proteins/*geneticsDNA-Binding Proteins/*geneticsFemaleHaplotypesHumansKoreaMiddle Aged*Polymorphism, GeneticPolymorphism, Single Nucleotide/genetics*Postmenopause*PremenopauseProtein-Serine-Threonine Kinases/*geneticsRisk FactorsTumor Suppressor Proteins/*genetics
Abstract
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 (chi2 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.
ISSN
1055-9965 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15824150

http://hdl.handle.net/10371/27883
DOI
https://doi.org/10.1158/1055-9965.EPI-04-0330
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College of Medicine/School of Medicine (의과대학/대학원)Preventive Medicine (예방의학전공)Journal Papers (저널논문_예방의학전공)
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