Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran.
Department of Epidemiology, School of Public Health, Iran University of Medical Sciences, Tehran, Iran.
BMC Cancer. 2021 Jan 5;21(1):27. doi: 10.1186/s12885-020-07749-6.
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.
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.
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).
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.
共济失调毛细血管扩张突变基因(ATM)有助于修复受损的 DNA 并调节细胞周期;因此,ATM 变体似乎会增加乳腺癌的风险;然而,结果存在争议。因此,我们进行了系统评价和荟萃分析,以阐明各种 ATM 变体与乳腺癌风险之间的综合关联。
通过 Scopus、Web of Science、PubMed 和 Cochrane 搜索相关研究。进行分层和亚组分析,以探索研究之间的异质性并评估研究质量的影响。计算汇总估计值对数与标准误差对数比值和置信区间的相对风险。
本研究表明 ATM 变体与乳腺癌风险之间存在关联;根据七项调整后的病例对照研究,该关联的 OR 估计值为 1.67(95%CI:0.73-3.82),根据九项未调整的病例对照研究,粗 OR 为 2.27(95%CI:1.17-4.40),根据两项队列研究,RR 估计值为 1.68(95%CI:1.17-2.40)。
ATM 变体与乳腺癌风险增加相关,ATM V2424G 突变被检测为最易患因素,而 ATM D1853V、L546V 和 S707P 变体的预测能力最小。