Molecular genetics of renal cell carcinoma

Abstract

In the last decade, from the early large-scale multigene profiling using traditional Sanger sequencing to the more recent next-generation whole-exome and whole-genome sequencing, the genomic landscapes of renal cell carcinoma (RCC), consisting mainly of clear-cell, papillary (1 and 2), and chromophobe subtypes, have been characterized. This genomic information, coupled with DNA methylation, has shed light on the molecular biology of RCC and created tremendous opportunities for future research that hopefully will lead to improvement in diagnosis, prognosis, treatment, and prevention of RCC. This chapter will summarize the most recent genomic and DNA methylation profiles of these three subtypes of RCC and highlight the major biological pathways involved and their clinical relevance.