Molecular Biology and Genetics of Renal Cell Carcinoma

Renal cell carcinomas (RCCs) are a heterogeneous family of tumors with distinct histologic appearances, underlying genetics, and clinical behaviors. In the past few decades, the genetic pathways involved in each subtype have been elucidated by studies of familial or hereditary forms of renal cancer, as well as advancements in molecular genetics, which form the basis for the findings in this textbook chapter and which have culminated in the comprehensive knowledge of the molecular basis of renal cell carcinomas elucidated by work by the Cancer Genome Atlas (TCGA) project. Understanding more about the single-gene syndromes like von Hippel-Lindau (VHL), hereditary papillary RCC, Birt-Hogg-Dube, and hereditary leiomyomatosis RCC, described herein, will eventually enable clinician scientists to develop pathway-specific and more personalized therapies for RCC.