Ramarao-Milne Priya, Kondrashova Olga, Barry Sinead, Hooper John D, Lee Jason S, Waddell Nicola
Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Faculty of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia.
Cancers (Basel). 2021 Feb 16;13(4):816. doi: 10.3390/cancers13040816.
Genetic and epigenetic factors contribute to the development of cancer. Epigenetic dysregulation is common in gynaecological cancers and includes altered methylation at CpG islands in gene promoter regions, global demethylation that leads to genome instability and histone modifications. Histones are a major determinant of chromosomal conformation and stability, and unlike DNA methylation, which is generally associated with gene silencing, are amenable to post-translational modifications that induce facultative chromatin regions, or condensed transcriptionally silent regions that decondense resulting in global alteration of gene expression. In comparison, other components, crucial to the manipulation of chromatin dynamics, such as histone modifying enzymes, are not as well-studied. Inhibitors targeting DNA modifying enzymes, particularly histone modifying enzymes represent a potential cancer treatment. Due to the ability of epigenetic therapies to target multiple pathways simultaneously, tumours with complex mutational landscapes affected by multiple driver mutations may be most amenable to this type of inhibitor. Interrogation of the actionable landscape of different gynaecological cancer types has revealed that some patients have biomarkers which indicate potential sensitivity to epigenetic inhibitors. In this review we describe the role of epigenetics in gynaecological cancers and highlight how it may exploited for treatment.
遗传和表观遗传因素促成了癌症的发展。表观遗传失调在妇科癌症中很常见,包括基因启动子区域CpG岛的甲基化改变、导致基因组不稳定的全基因组去甲基化以及组蛋白修饰。组蛋白是染色体构象和稳定性的主要决定因素,与通常与基因沉默相关的DNA甲基化不同,组蛋白易于进行翻译后修饰,从而诱导兼性染色质区域或浓缩的转录沉默区域解聚,导致基因表达的全局改变。相比之下,对染色质动力学调控至关重要的其他成分,如组蛋白修饰酶,尚未得到充分研究。靶向DNA修饰酶,特别是组蛋白修饰酶的抑制剂代表了一种潜在的癌症治疗方法。由于表观遗传疗法能够同时靶向多种途径,受多种驱动突变影响且具有复杂突变图谱的肿瘤可能最适合这种类型的抑制剂。对不同妇科癌症类型的可操作图谱进行研究发现,一些患者具有表明对表观遗传抑制剂潜在敏感性的生物标志物。在这篇综述中,我们描述了表观遗传学在妇科癌症中的作用,并强调了其在治疗中的应用潜力。