Abstract
The ataxia-telangiectasia mutated (ATM) gene is responsible for DNA repair and involves tumor-suppressing, which its mutation increases the risk of women's breast cancer (BC). We investigated the association of three ATM polymorphisms (rs611646, rs609429 and, rs228593) with BC. Genotyping analyses were carried out using specific primers for the PCR-RFLP method. In this study, 236 patients and 223 healthy women were compared. The ancestral allele frequencies of rs611646, rs609429 and, rs228593 polymorphisms in control subjects were 42.2, 70.6, and 50.9%, and in BC cases were 38.3, 70.9, and 49.4%, respectively. The genotypic frequencies in the control group did not substantially differ from the Hardy-Weinberg equilibrium. There is a substantial linkage disequilibrium across three polymorphisms. Our results revealed that these three ATM polymorphisms did not associate with breast cancer susceptibility even after haplotype analysis.
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