The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis

• Main Authors: Masoumeh Moslemi, Yousef Moradi, Hojat Dehghanbanadaki, Hamed Afkhami, Mansoor Khaledi, Najmeh Sedighimehr, Javad Fathi, Ehsan Sohrabi
• Format: Article
• Language: English
• Published: BMC 2021-01-01
• Series: BMC Cancer
• Subjects: Breast cancer; ATM; Variant; Systematic review; Meta-analysis
• Online Access: https://doi.org/10.1186/s12885-020-07749-6

Abstract Background Ataxia telangiectasia-mutated (ATM) gene contributes to repair damaged DNA and to regulate cell cycle; therefore, ATM variants seem to increase breast cancer risk; however, the results are controversial. So we conducted a systematic review and meta-analysis to clarify the pooled association between various ATM variants and the risk of breast cancer. Methods The relevant studies were searched through Scopus, Web of Science, PubMed and Cochrane. Stratified and subgroup analyses were performed to explore heterogeneity between studies and assess effects of study quality. The pooled estimates logarithm with standard error logarithm of odds ratio and relative risk with confidence interval were calculated. Results This study revealed that there is association between ATM variants and the risk of breast cancer; according to the seven adjusted case-control studies, OR of this association was estimated as 1.67 (95%CI: 0.73–3.82), according to nine unadjusted case-control studies, the crude OR was 2.27 (95% CI: 1.17–4.40) and according to two cohorts, the RR was estimated as 1.68 (95% CI: 1.17–2.40). Conclusions The ATM variants are associated with an increased risk of breast cancer that ATM V2424G mutation is detected as the most predisposing factor while ATM D1853V, L546V, and S707P variants have the least predictive ability.