ĭuring the last decade, BRCA1 and BRCA2 mutations (BRCA1/2) have been screened for hereditary breast cancer and results showed that mutations in BRCA1/2 account for 5% of hereditary breast cancer.
Accurate diagnosis of cancer based on the type of mutation is very helpful for deciding on the treatment and follow up of patients. The Clinical manifestations of breast cancer are very different in patients and these various manifestations largely depend on the type of genetic mutation. According to the World Health Organization (WHO) report, 1 out of 9 women in the world suffers from this type of cancer during their life. Annually, 1.67 million women become infected with this type of cancer and have 522,000 mortality rate each year. 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.īreast Cancer is the most common cancer in women and causes the highest mortality rate in developed and developing countries. 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 pooled estimates logarithm with standard error logarithm of odds ratio and relative risk with confidence interval were calculated. Stratified and subgroup analyses were performed to explore heterogeneity between studies and assess effects of study quality. The relevant studies were searched through Scopus, Web of Science, PubMed and Cochrane. So we conducted a systematic review and meta-analysis to clarify the pooled association between various ATM variants and the risk of breast cancer.
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.
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