Division of Medical Oncology, Department of Biomedical Sciences and Human Oncology, University of Bari 'Aldo Moro', A.O.U. Consorziale Policlinico di Bari, 70121 Bari, Italy.
National Cancer Research Center, Tumori Institute IRCCS Giovanni Paolo II, 70121 Bari, Italy.
Genes (Basel). 2021 May 13;12(5):727. doi: 10.3390/genes12050727.
Molecular alterations of the Ataxia-telangiectasia () gene are frequently detected in breast cancer (BC), with an incidence ranging up to 40%. The mutated form, the Ataxia-telangiectasia mutated () gene, is involved in cell cycle control, apoptosis, oxidative stress, and telomere maintenance, and its role as a risk factor for cancer development is well established. Recent studies have confirmed that some variants of are associated with an increased risk of BC development and a worse prognosis. Thus, many patients harboring mutations develop intermediate- and high-grade disease, and there is a higher rate of lymph node metastatic involvement. The evidence concerning a correlation of ATM gene mutations and the efficacy of therapeutic strategies in BC management are controversial. In fact, mutations may sensitize cancer cells to platinum-derived drugs, as BRCA1/2 mutations do, whereas their implications in objective responses to hormonal therapy or target-based agents are not well defined. Herein, we conducted a review of the role of gene mutations in BC development, prognosis, and different treatment strategies.
共济失调毛细血管扩张症（）基因突变在乳腺癌（BC）中经常被检测到，发生率高达 40%。突变形式，共济失调毛细血管扩张症突变（）基因，参与细胞周期控制、细胞凋亡、氧化应激和端粒维持，其作为癌症发展的风险因素已得到充分证实。最近的研究证实，一些的变体与乳腺癌发展和预后不良的风险增加有关。因此，许多携带基因突变的患者发展为中高级别疾病，并且淋巴结转移的发生率更高。关于 ATM 基因突变与 BC 管理中治疗策略疗效之间相关性的证据存在争议。事实上，突变可能使癌细胞对铂类药物敏感，就像 BRCA1/2 突变一样，而它们对激素治疗或基于靶向药物的客观反应的影响尚不清楚。在此，我们对基因在 BC 发生、预后和不同治疗策略中的作用进行了综述。
