癌症的产生是由于不断积累的转变影响基因组的结构和功能。基因变化破坏了 DNA 序列，而表观遗传变异通过调节促进肿瘤发生的基因表达计划，有助于获得典型肿瘤能力的获得。DNA 甲基化和组蛋白标记图案的转变，这两种主要的表观遗传修饰，协调了肿瘤的进展和转移。这些癌症特异性事件已被作为诊断、监测和治疗选择的有用工具，以辅助临床决策。此外，与基因变异的不可逆性相比，表观遗传修饰的可逆性使表观遗传机制成为药物开发的有吸引力的目标。本综述总结了表观遗传生物标志物和表观遗传药物在临床中最先进的应用，重点介绍了商业化的基于 DNA 甲基化的检测和已经获得美国食品药品监督管理局批准的表观遗传药物。©2022作者。Wiley Periodicals LLC 代表美国癌症协会出版了《CA：临床肿瘤学杂志》。

Cancer development is driven by the accumulation of alterations affecting the structure and function of the genome. Whereas genetic changes disrupt the DNA sequence, epigenetic alterations contribute to the acquisition of hallmark tumor capabilities by regulating gene expression programs that promote tumorigenesis. Shifts in DNA methylation and histone mark patterns, the two main epigenetic modifications, orchestrate tumor progression and metastasis. These cancer-specific events have been exploited as useful tools for diagnosis, monitoring, and treatment choice to aid clinical decision making. Moreover, the reversibility of epigenetic modifications, in contrast to the irreversibility of genetic changes, has made the epigenetic machinery an attractive target for drug development. This review summarizes the most advanced applications of epigenetic biomarkers and epigenetic drugs in the clinical setting, highlighting commercially available DNA methylation-based assays and epigenetic drugs already approved by the US Food and Drug Administration.© 2022 The Authors. CA: A Cancer Journal for Clinicians published by Wiley Periodicals LLC on behalf of American Cancer Society.