Renal Molecular Oncology Group, Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Genome Med. 2010 Sep 3;2(9):59. doi: 10.1186/gm180.
Aberrant DNA methylation, in particular promoter hypermethylation and transcriptional silencing of tumor suppressor genes, has an important role in the development of many human cancers, including renal cell carcinoma (RCC). Indeed, apart from mutations in the well studied von Hippel-Lindau gene (VHL), the mutation frequency rates of known tumor suppressor genes in RCC are generally low, but the number of genes found to show frequent inactivation by promoter methylation in RCC continues to grow. Here, we review the genes identified as epigenetically silenced in RCC and their relationship to pathways of tumor development. Increased understanding of RCC epigenetics provides new insights into the molecular pathogenesis of RCC and opportunities for developing novel strategies for the diagnosis, prognosis and management of RCC.
异常的 DNA 甲基化，尤其是肿瘤抑制基因的启动子过度甲基化和转录沉默，在许多人类癌症的发展中起着重要作用，包括肾细胞癌（RCC）。事实上，除了在研究充分的 von Hippel-Lindau 基因（VHL）中发现的突变外，RCC 中已知的肿瘤抑制基因的突变频率通常较低，但通过 RCC 中启动子甲基化发现经常失活的基因数量继续增加。在这里，我们回顾了在 RCC 中被确定为表观遗传沉默的基因及其与肿瘤发展途径的关系。对 RCC 表观遗传学的深入了解为 RCC 的分子发病机制提供了新的见解，并为开发用于诊断、预后和治疗 RCC 的新策略提供了机会。
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