2010/11/11 by Eamonn R. Maher · 35 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Renal cell carcinoma treatment #Renal and related cancers #Epigenetics and DNA Methylation #Birt–Hogg–Dubé syndrome #Renal cell carcinoma #Medicine #Folliculin #Kidney cancer #Disease #Cancer #Pathology #Carcinogenesis #Lynch syndrome #Internal medicine #Bioinformatics #Oncology #Biology #Colorectal cancer #Genetics #Gene #DNA mismatch repair
paper · doi:10.1159/000320892
published in Nephron Experimental Nephrology 118(1), e21-e26 (Karger Publishers)
openalex publication_date 2010/11/11 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/15
Renal cell carcinoma (RCC) is a heterogeneous disorder. A variety of histopathological subtypes occur, and the molecular mechanisms associated with these subtypes can differ. Only a small fraction of all RCC is accounted for by inherited cases (e.g. von Hippel-Lindau disease, Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis renal cell cancer), but such cases can pose specific clinical management issues and offer opportunities for early cancer detection and prevention. Furthermore, inherited RCC syndromes have provided important paradigms to study the molecular basis of renal tumourigenesis. The identification of molecular mechanisms of carcinogenesis in inherited RCC syndromes should lead to novel approaches to personalized therapeutics.