The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis
- PMID: 33402103
- PMCID: PMC7786920
- DOI: 10.1186/s12885-020-07749-6
The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis
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.
Keywords: ATM; Breast cancer; Meta-analysis; Systematic review; Variant.
Conflict of interest statement
We declare that we have no conflict of interest.
Figures
Similar articles
-
Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.BMC Cancer. 2018 Nov 1;18(1):1060. doi: 10.1186/s12885-018-4941-1. BMC Cancer. 2018. PMID: 30384829 Free PMC article.
-
Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.BMC Cancer. 2018 Apr 20;18(1):452. doi: 10.1186/s12885-018-4360-3. BMC Cancer. 2018. PMID: 29678143 Free PMC article.
-
Association of ATM and BMI-1 genetic variation with breast cancer risk in Han Chinese.J Cell Mol Med. 2018 Jul;22(7):3671-3678. doi: 10.1111/jcmm.13650. Epub 2018 Apr 24. J Cell Mol Med. 2018. PMID: 29691986 Free PMC article.
-
Impact of ATM rs1801516 on late skin reactions of radiotherapy for breast cancer: Evidences from a cohort study and a trial sequential meta-analysis.PLoS One. 2019 Nov 22;14(11):e0225685. doi: 10.1371/journal.pone.0225685. eCollection 2019. PLoS One. 2019. PMID: 31756226 Free PMC article.
-
Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review.Curr Oncol. 2018 Apr;25(2):e176-e180. doi: 10.3747/co.25.3707. Epub 2018 Apr 30. Curr Oncol. 2018. PMID: 29719442 Free PMC article. Review.
Cited by
-
The DNA repair pathway as a therapeutic target to synergize with trastuzumab deruxtecan in HER2-targeted antibody-drug conjugate-resistant HER2-overexpressing breast cancer.J Exp Clin Cancer Res. 2024 Aug 21;43(1):236. doi: 10.1186/s13046-024-03143-3. J Exp Clin Cancer Res. 2024. PMID: 39164784 Free PMC article.
-
Clinico-genomic findings, molecular docking, and mutational spectrum in an understudied population with breast cancer patients from KP, Pakistan.Front Genet. 2024 May 9;15:1383284. doi: 10.3389/fgene.2024.1383284. eCollection 2024. Front Genet. 2024. PMID: 38784039 Free PMC article.
-
A Case Report to Reflect on the Origins of MMRd Mesonephric-like Ovarian Adenocarcinoma: Can It Be Defined as a Mϋllerian Neoplasm?Int J Mol Sci. 2025 May 29;26(11):5245. doi: 10.3390/ijms26115245. Int J Mol Sci. 2025. PMID: 40508054 Free PMC article.
-
The role of epigenetic modifications in drug resistance and treatment of breast cancer.Cell Mol Biol Lett. 2022 Jun 28;27(1):52. doi: 10.1186/s11658-022-00344-6. Cell Mol Biol Lett. 2022. PMID: 35764927 Free PMC article. Review.
-
Quercetin as a JAK-STAT inhibitor: a potential role in solid tumors and neurodegenerative diseases.Cell Mol Biol Lett. 2022 Jul 26;27(1):60. doi: 10.1186/s11658-022-00355-3. Cell Mol Biol Lett. 2022. PMID: 35883021 Free PMC article. Review.
References
-
- Moslemi M, et al. Expression analysis of EEPD1 and MUS81 genes in breast Cancer. 2020.
-
- Thorstenson YR, et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res. 2003;63(12):3325–3333. - PubMed
-
- Hirsch AE, Atencio DP, Rosenstein BS. Screening for ATM sequence alterations in African-American women diagnosed with breast cancer. Breast Cancer Res Treat. 2008;107(1):139–144. - PubMed
-
- Desmond A, et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol. 2015;1(7):943–951. - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
Miscellaneous