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乳腺癌是与环境因素密切相关的肿瘤之一,致癌因素诱发的DNA损伤信号被传送到多个效应因子,最终导致细胞坏死和癌变。其中,共济失调性毛细血管扩张症致病基因(Ataxia-telangiectasia mutated,ATM)编码的ATM蛋白激酶是DNA损伤应答的主要调控因子,其通过磷酸化一系列下游底物来应对DNA损伤,这在抑制乳腺癌的发生发展中起到了重要的作用。ATM基因突变后,导致损伤DNA不能得到正确修复,最终加速了乳腺癌的转化和增殖。随着对ATM基因结构、功能及乳腺癌易感性机制研究的深入,ATM基因与乳腺癌易感性关系已引起广泛的重视。以下就ATM基因突变、多态性和甲基化等几个方面与乳腺癌易感性的关系进行了简要概述。
Breast cancer is one of the tumor closely related to environmental factors. The DNA damage signal induced by carcinogenic factors is transmitted to multiple effect factors, which eventually leads to cell necrosis and carcinogenesis. Among them, ATM protein kinase encoded by Ataxia-telangiectasia mutated (ATM) gene is a major regulator of DNA damage response, which responds to DNA damage by phosphorylating a series of downstream substrates, which It plays an important role in inhibiting the occurrence and development of breast cancer. ATM gene mutation, resulting in DNA damage can not be properly repaired, and ultimately accelerated the transformation and proliferation of breast cancer. With the further study of ATM gene structure, function and the mechanism of breast cancer susceptibility, the relationship between ATM gene and susceptibility to breast cancer has attracted a great deal of attention. The following ATM gene mutations, polymorphisms and methylation and several other aspects of the relationship with the susceptibility to breast cancer are briefly summarized.