Genotyping of Ataxia-Telangiectasia Mutated (ATM) Polymorphisms in Patients with Breast Cancer Naser Maryam Sabah1,*, Omran Rabab1, Al-alwany Shakir H. Mohammed1 1College of Science, University of Babylon, Iraq *Corresponding Author: Maryam Sabah Naser, College of Science, University of Babylon, Iraq, Email: Maryamsabah91@yahoo.com
Online published on 23 December, 2019. Abstract Background The Ataxia-telangiectasia mutated (ATM) gene encodes a protein kinase with PI-3 kinase-related domain that plays a significant role in the activation of cellular responses to DNA double-strand breaks through subsequent phosphorylation of central players in the DNA damage-response pathway. Many studies explained that specific variants in the ATM gene are related with malignant breast tumors risk. The aim of current study was to assess the rates of Ataxia-telangiectasia mutated (ATM) genetic polymorphism in a group of breast cancer and apparently normal breast tissues. Method One-hundred and fifty 150 frozen fresh breast tissues were enrolled in this study as 100 biopsies were from breast carcinoma and 50 were from apparently normal breast tissues as control group. Detection of ATM (c. IVS10-6T > G) variants was performed by using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis. Results Detection of ATM (IVS10-6T > G) mutation in tissues with breast carcinoma was observed in six out of 100, while in apparently normal breast tissues (control group) was one biopsy out of 50. The statistical differences between the rates of ATM (IVS10-6T > G) mutation were non-significant (P≤ 0.05). Conclusion Our results indicated that the ATM gene c.1066-6T > G (IVS10-6T > G) mutation did not contribute to the development of a subset of breast malignant tumors in Iraqi population. Top Keywords ATM genotyping, Breast cancer, PCR-RFLP, polymorphism, protein kinase. Top |