Abstract
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.
Highlights
Epidemiology and pathogenesis of renal cell carcinoma Kidney cancers account for about 2% of all cancers, and more than 200,000 new cases of kidney cancer are diagnosed worldwide each year [1]. e most common form of kidney cancer in adults is renal cell carcinoma (RCC)
von Hippel-Lindau (VHL) inactivation leads to stabilization of the hypoxia-inducible transcription factors HIF-1 and HIF-2
tumor suppressor gene (TSG) inactivation may result from genetic or epigenetic events, and it is well recognized that epigenetic silencing of TSGs has a significant role in the pathogenesis of many, if not all, human cancers
Summary
Epidemiology and pathogenesis of renal cell carcinoma Kidney cancers account for about 2% of all cancers, and more than 200,000 new cases of kidney cancer are diagnosed worldwide each year [1]. e most common form of kidney cancer in adults is renal cell carcinoma (RCC).
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