The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis

By searching PubMed and Embase databases, a total of 9 epidemiological studies with 4,191 cases and 3,780 controls were identified. Crude odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) for ATM D1853N polymorphism and breast cancer risk were calculated using fixed- or random-effects model based on the degree of heterogeneity among studies.No significant association between the ATM D1853N polymorphism and breast cancer risk was observed in overall analysis (GA versus GG: OR = 1.18; 95% CI, 0.90-1.53; AA versus GG: OR = 0.77; 95% CI, 0.58-1.03; dominant model: OR = 1.16; 95% CI, 0.89-1.51; and recessive model: OR = 0.78; 95% CI, 0.59-1.04, respectively).Our results indicate that ATM D1853N polymorphism is not a risk factor for developing breast cancer.Ataxia-telangiectasia (A-T) is an autosomal recessive disorder that affects many parts of the body and leads to increased risk of malignancy, including breast cancer [1-3]. A-T is caused by mutations in the ataxia telangiectasia-mutated (ATM) [4]. ATM, a member of the phosphatidylinositol 3-kinase-like family, plays central roles in the repair of DNA double-strand breaks that was caused by a range of DNA-damaging agents such as ionizing radiation [5].The ATM gene, located on chromosome 11q22-23 and consisting of 66 exons, has been reported to be involved in numerous damage repair signaling pathways and cell-cycle checkpoints [4,6]. Loss of heterozygosity in the region of the ATM gene has been detected in approximately 40% of human sporadic breast tumors [7-11]. Breast cancer patients with the combination of radiation treatment and an ATM missense variant resulted in a shorter mean interval to develop a second tumor than patients without radiation treatment and ATM germline mutation [12]. Previously, some studies reported that female ATM-heterozygous carriers have an increased risk of breast cancer [1,13-18]. In contrast, some studies failed to find that ATM-heterozygous mutations were more freque