肿瘤组织中常伴随基因组整体甲基化水平降低和(或)某些基因CpG岛甲基化水平异常升高,这两种变化在肿瘤发生和发展中都扮演着重要的角色。近年来诸多研究报道了CpG岛高甲基化可导致乳腺癌相关的一系列关键基因的表达缺失。由于表观遗传变化存在潜在可逆性,因此,通过检测患者特定基因甲基化状态早期诊断乳腺癌,以及运用甲基化抑制剂来治疗乳腺癌,已成为国内外研究的热点和新思路。 Tumor tissue often accompanied by decreased overall methylation of the genome and / or abnormal methylation of CpG islands in some genes, both of which play an important role in tumorigenesis and development. In recent years, many studies reported that CpG island hypermethylation can lead to the lack of expression of a series of key genes related to breast cancer. Due to the potential reversibility of epigenetic changes, it has become a hot and new research field both at home and abroad to detect breast cancer by detecting the methylation status of specific genes and to treat methylation of breast cancer with methylation inhibitors.