University of Liverpool Cancer Research Centre, Liverpool, United Kingdom.
Adv Genet. 2010;71:177-207. doi: 10.1016/B978-0-12-380864-6.00006-7.
DNA methylation deregulation is one of the major components of epigenetic reprogramming affecting many human diseases. Due to its chemical nature and the advances in technology, DNA methylation is unique for biomarker utilization. DNA methylation changes have been detected in a variety of human body fluids associated with a large number of malignant and benign diseases. This chapter summarizes the evidence from a wide range of studies in this field and demonstrates the clinical potential of DNA methylation in cancer diagnostics. The technical approaches are discussed, emphasizing on quality control issues and potential pitfalls. Finally, the lack of transferring this technology to the clinic is being discussed, highlighting key study design issues that are required for biomarker validation and clinical implementation.
DNA 甲基化失调是影响许多人类疾病的表观遗传重编程的主要组成部分之一。由于其化学性质和技术的进步，DNA 甲基化是生物标志物应用的独特选择。已经在与大量恶性和良性疾病相关的各种人体体液中检测到 DNA 甲基化变化。本章总结了该领域广泛研究的证据，并展示了 DNA 甲基化在癌症诊断中的临床潜力。讨论了技术方法，强调了质量控制问题和潜在的陷阱。最后，讨论了将这项技术推向临床应用的缺乏，并强调了生物标志物验证和临床实施所需的关键研究设计问题。
