Aim: Several epidemiological studies have investigated the association between ataxia telangiectasia mutated (ATM) gene polymorphisms and breast cancer risk. However, published data are still inconclusive and there are no such studies for Taiwan. Thus, the polymorphic variants of ATM were investigated for their association with breast cancer in Taiwan for the first time here.
Patients and methods: In this hospital-based matched case-control study, associations of seven ATM single nucleotide polymorphisms (rs600931, rs652311, rs227060, rs227292, rs624366 and rs189037) with breast cancer risk in a Taiwanese population were investigated. One thousand two hundred and thirty-two patients with breast cancer and the same number of age-matched healthy controls recruited were genotyped and analyzed.
Results: There was a slight difference between breast cancer and control groups in the distributions of their genotypic (p = 0.0774) and allelic frequencies (p = 0.0217) in the rs189037 polymorphism. As for the other six polymorphisms there was no differential distribution.
Conclusion: Our data indicate that ATM polymorphism is associated with breast cancer, and the A allele of ATM rs189037 is a minor risky biomarker of breast cancer in Taiwan. The gene-gene and gene-environment interactions of ATM with other factors is worthy of further investigation.