Abstract
Breast cancer is the most common cancer in women, and its high mortality has become one of the biggest health problems globally. Several studies have reported an association between breast cancer and ATM gene variants. This study aimed to demonstrate and analyze the relationship between ATM gene polymorphisms and breast cancer prevalence rate. A systematic literature review was undertaken using the following databases: Medline (PubMed), Web of sciences, Scopus, EMBASE, Cochrane, Ovid, and CINHAL to retrieve all cross-sectional studies between January 1990 and January 2020, which had reported the frequency of ATM variants in patients with breast cancer. A random-effects model was applied to calculate the pooled prevalence with a 95% confidence interval. The pooled prevalence of ATM variants in patients with breast cancer was 7% (95% CI: 5−8%). Also, the pooled estimate based on type of variants was 6% (95% CI: 4−8%; I square: 94%; P: 0.00) for total variants¸ 0% (95% CI: 0−1%; I square: 0%; P: 0.59) for deletion variants, 12% (95% CI: 7−18%; I square: 99%; P: 0.00) for substitution variants, and 2% (95% CI: 4−9%; I square: 67%; P: 0.08) for insertion variants. This meta-analysis showed that there is a significant relationship between ATM variants in breast cancer patients. Further studies are required to determine which of the variants of the ATM gene are associated with BRCA mutations.
Highlights
Breast cancer is a global health problem and has the highest worldwide incidence among women
Some studies have reported an association of Ataxia telangiectasia mutated (ATM) gene mutations with breast cancer, and some have evaluated the prevalence of this gene variant in breast cancer
The prevalence of ATM in patients with breast cancer in the world by countries The pooled prevalence of ATM in patients with breast cancer in several continent was 7%, 5% and 9% for European, Asian and American population, respectively (Table 2)
Summary
Breast cancer is a global health problem and has the highest worldwide incidence among women. Ataxia telangiectasia mutated (ATM) is a protein kinase enzyme with a crucial role in the DNA repair system, especially in DNA double-strand repair. This gene is located on chromosome 11q 22–23 and includes 66 exons [15]. ATM acts as an intracellular sensor that becomes active in response to DNA double-strand break and phosphorylates many downstream tumor suppressor genes such as BRCA1, p53, chk, and chk1 [16]. It is a strong candidate for mutation in cancer multistage development [17]. We aimed to undertake a systematic review and meta-analysis of the prevalence of ATM variants in breast cancer from different countries, the association of these variants with the BRCA status of patients, and the prevalence of other variants in the ATM gene
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