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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics | Morris and Maher Genome Medicine 2010 2 59 http genomemedicine.eom content 2 9 59 Genome Medicine REVIEW L_ Epigenetics of renal cell carcinoma the path towards new diagnostics and therapeutics Mark R Morris1 2 and Eamonn R Maher1 2 3 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. Background 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 . The most common form of kidney cancer in adults is renal cell carcinoma RCC . Most RCC cases approximately 75 are classified as clear cell conventional RCC ccRCC and the next most frequent subtype is papillary RCC pRCC approximately 15 of all cases 2 . The most common genetic event in the evolution of sporadic ccRCC is inactivation of the von Hippel-Lindau VHL tumor suppressor gene TSG 3-6 . VHL inactivation leads to stabilization of the hypoxia-inducible transcription factors HIF-1 and HIF-2 Correspondence e.r.maher@bham.ac.uk 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
