Suzuki Hiromu, Toyota Minoru, Kondo Yutaka, Shinomura Yasuhisa
First Department of Internal Medicine, Sapporo Medical University, Sapporo, Japan.
Methods Mol Biol. 2009;512:55-69. doi: 10.1007/978-1-60327-530-9_5.
It is now apparent that epigenetic abnormalities, in particular altered DNA methylation, play a crucial role in the development and progression of human cancers. DNA hypermethylation at promoter CpG islands is now recognized as a third mechanism by which inactivation of tumor suppressor genes occurs. Aberrant CpG island hypermethylation is also frequently observed in chronic inflammation and precancerous lesions, which suggests that it is an early event in tumorigenesis that could serve as a useful tumor marker. A variety of screening techniques have been developed for genome-wide screening of methylation status. Of those, transcriptome analysis coupled with pharmacological unmasking has emerged as a powerful tool for revealing DNA methylation patterns in cancer cells and identifying new tumor marker candidates.
现在很明显，表观遗传异常，尤其是DNA甲基化改变，在人类癌症的发生和发展中起着至关重要的作用。启动子CpG岛的DNA高甲基化现在被认为是肿瘤抑制基因失活的第三种机制。在慢性炎症和癌前病变中也经常观察到异常的CpG岛高甲基化，这表明它是肿瘤发生过程中的一个早期事件，可作为一种有用的肿瘤标志物。已经开发了多种用于全基因组甲基化状态筛查的技术。其中，转录组分析结合药理学去掩蔽已成为揭示癌细胞中DNA甲基化模式和识别新的肿瘤标志物候选物的强大工具。
