Masoumeh Moslemi1, Yousef Moradi2, Hojat Dehghanbanadaki3, Hamed Afkhami4, Mansoor Khaledi4, Najmeh Sedighimehr5, Javad Fathi6, Ehsan Sohrabi7. 1. Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran. 2. Department of Epidemiology, School of Public Health, Iran University of Medical Sciences, Tehran, Iran. 3. Students Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran. 4. Department of Microbiology, Faculty of Medicine, Shahed University, Tehran, Iran. 5. Department of Physiotherapy School of Rehabilitation, Shiraz University of Medical Sciences, Shiraz, Iran. 6. Department of Bacteriology and Virology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. 7. Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran. h.a.university.ac@gmail.com.
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.
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.
Entities:
Keywords:
ATM; Breast cancer; Meta-analysis; Systematic review; Variant
Authors: A Broeks; J H Urbanus; A N Floore; E C Dahler; J G Klijn; E J Rutgers; P Devilee; N S Russell; F E van Leeuwen; L J van 't Veer Journal: Am J Hum Genet Date: 2000-02 Impact factor: 11.025
Authors: M Mitui; S A Nahas; L T Du; Z Yang; C H Lai; K Nakamura; S Arroyo; S Scott; A Purayidom; P Concannon; M Lavin; R A Gatti Journal: Hum Mutat Date: 2009-01 Impact factor: 4.878
Authors: N J H van Os; N Roeleveld; C M R Weemaes; M C J Jongmans; G O Janssens; A M R Taylor; N Hoogerbrugge; M A A P Willemsen Journal: Clin Genet Date: 2016-01-20 Impact factor: 4.438