Estiar Mehrdad Asghari, Mehdipour Parvin
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran 14155-6447, Iran.
Cancer Biol Med. 2018 Aug;15(3):210-227. doi: 10.20892/j.issn.2095-3941.2018.0022.
The gene is mutated in the syndrome, ataxia-telangiectasia (AT), which is characterized by predisposition to cancer. Patients with AT have an elevated risk of breast and brain tumors Carrying mutations in , patients with AT have an elevated risk of breast and brain tumors. An increased frequency of mutations has also been reported in patients with breast and brain tumors; however, the magnitude of this risk remains uncertain. With the exception of a few common mutations, the spectrum of alterations is heterogeneous in diverse populations, and appears to be remarkably dependent on the ethnicity of patients. This review aims to provide an easily accessible summary of common variants in different populations which could be useful in screening programs. In addition, we have summarized previous research on ATM, including its molecular functions. We attempt to demonstrate the significance of ATM in exploration of breast and brain tumors and its potential as a therapeutic target.
该基因在共济失调毛细血管扩张症（AT）综合征中发生突变，AT的特征是易患癌症。AT患者患乳腺癌和脑肿瘤的风险升高。携带该基因突变的AT患者患乳腺癌和脑肿瘤的风险升高。在乳腺癌和脑肿瘤患者中也报告了该基因突变频率增加；然而，这种风险的程度仍不确定。除了少数常见突变外，该基因改变的谱在不同人群中是异质的，并且似乎明显依赖于患者的种族。本综述旨在提供不同人群中常见变异的易于获取的总结，这可能在筛查项目中有用。此外，我们总结了先前关于ATM的研究，包括其分子功能。我们试图证明ATM在乳腺癌和脑肿瘤研究中的意义及其作为治疗靶点的潜力。
