Breast Cancer Research and Treatment

, Volume 126, Issue 1, pp 141–148

Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk: evidence from the current studies


DOI: 10.1007/s10549-010-1081-y

Cite this article as:
Lu, PH., Wei, MX., Si, SP. et al. Breast Cancer Res Treat (2011) 126: 141. doi:10.1007/s10549-010-1081-y


Epidemiological studies have evaluated the association between ataxia telangiectasia mutated (ATM) gene polymorphisms and breast cancer risk. However, published data are still inconclusive. We performed a meta-analysis for the first time, based on currently available evidence, by searching PubMed, ISI Web of Knowledge, and Embase databases to derive a more precise assessment of the relationship. Following the inclusion and exclusion criteria, nine publications were included in this meta-analysis. Of these studies, one had a deviation from the Hardy–Weinberg equilibrium (HWE) at a statistical significance level of 0.01 in controls, and another two had no available data for HWE. We observed that the ATM 5557G>A polymorphism was significantly correlated with breast cancer risk when all studies were pooled into the meta-analysis (recessive model: odds ratio, OR = 0.67; 95% confidence interval (CI) 0.51–0.89). For the ATM IVS38-8T>C polymorphism, no significant association was found in the allele contrast, heterozygote codominant, and dominant models. There were no available data to perform this meta-analysis in the homozygote codominant and recessive models. For the ATM IVS1+19A>T polymorphism, a significant association with breast cancer risk was found in the allele contrast model (C vs. T: OR = 1.60; 95% CI 1.02–2.52). For the IVS34+60G>A polymorphism, no significant association was found in the allele contrast, codominant, dominant, and recessive models. Egger’s test did not suggest any evidence of publication bias (P = 0.47 for the recessive model). In conclusion, there is limited evidence to indicate that ATM polymorphisms are associated with increased risk of breast cancer.


Ataxia telangiectasia Breast cancer Genetic polymorphisms Mutation Risk 

Copyright information

© Springer Science+Business Media, LLC. 2010

Authors and Affiliations

  1. 1.Department of General SurgeryWuxi People’s Hospital of Nanjing Medical UniversityWuxiChina
  2. 2.Department of Traditional Chinese MedicineFirst Affiliated Hospital of Nanjing Medical UniversityNanjingChina
  3. 3.Department of GastroenterologyWuxi People’s Hospital of Nanjing Medical UniversityWuxiChina
  4. 4.Department of Oncology, Kunshan First People’s HospitalJiangsu UniversityKunshanChina

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