Genetics of familial renal cancers.
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.
University of Birmingham Centre for Rare Diseases and Personalised Medicine and Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, UK. E.R.Maher@bham.ac.uk
Eamonn R
ER
Maher
D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D018231:Leiomyomatosis / Q000151:congenital / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary; D012878:Skin Neoplasms; D014594:Uterine Neoplasms; D006623:von Hippel-Lindau Disease / Q000235:genetics