Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, Barcelona, Spain.
Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, Barcelona, Spain; Department of Physiological Sciences II, School of Medicine, University of Barcelona, Barcelona, Spain; Institucio Catalana de Recerca i Estudis Avançats, Barcelona, Spain.
Am J Pathol. 2017 Oct;187(10):2163-2174. doi: 10.1016/j.ajpath.2017.07.002. Epub 2017 Jul 19.
From the first identification of aberrant DNA methylation in primary tumors in humans more than 3 decades ago, progress in cancer epigenetics research has been exponential. For many years, cancer epigenetics studies relied on the identification of DNA methylation and histone modifications at specific genes. Those studies laid the foundation for the field and revealed the epigenetic alterations as hallmarks of cancer, as well as the crucial role of epigenetic mechanisms in tumorigenesis. The introduction of next-generation sequencing and array-based technologies for analyzing epigenetic states has accelerated our understanding about cancer and have become potent tools in our fight against the disease. Findings emerging from epigenome-wide analyses have led to new discoveries with remarkable clinical applications. This review summarizes the gene-specific epigenetic alterations common in breast cancer and discusses the recent advances in breast cancer epigenomics, focusing on their contribution to diagnosis, prognosis, patient stratification, and treatment of the disease.
从 30 多年前首次在人类原发性肿瘤中鉴定出异常的 DNA 甲基化以来,癌症表观遗传学研究的进展呈指数级增长。多年来,癌症表观遗传学研究依赖于特定基因的 DNA 甲基化和组蛋白修饰的鉴定。这些研究为该领域奠定了基础,揭示了表观遗传改变是癌症的标志,以及表观遗传机制在肿瘤发生中的关键作用。用于分析表观遗传状态的下一代测序和基于阵列的技术的引入加速了我们对癌症的认识,并成为我们对抗疾病的有力工具。从全基因组表观基因组分析中得出的发现导致了具有显著临床应用的新发现。这篇综述总结了乳腺癌中常见的基因特异性表观遗传改变,并讨论了乳腺癌表观基因组学的最新进展,重点介绍了它们对疾病的诊断、预后、患者分层和治疗的贡献。