Molecular genetics of familial renal cell carcinoma syndromes.
RCC represents a group of clinically and genetically diverse diseases. Familial RCC syndromes, although rare, provide an invaluable model to study the molecular mechanisms of renal carcinogenesis. Many causative oncogenes and tumor suppressor genes have been identified and it is now possible to identify the affected individuals and carriers by genetic testing. Understanding of the molecular pathways of these genes will have a significant impact on the diagnosis and treatment of familial and sporadic RCC.
Cohen
David
D
The Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Zhou
Ming
M
D002291:Carcinoma, Papillary / Q000235:genetics / Q000473:pathology; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D005649:Fumarate Hydratase / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D007889:Leiomyoma / Q000235:genetics / Q000473:pathology; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins; D013577:Syndrome; D014178:Translocation, Genetic; D014402:Tuberous Sclerosis / Q000235:genetics / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics / Q000473:pathology
C476078:FLCN protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D005649:Fumarate Hydratase; C497446:VHL protein, human