title: Genetic disorders and renal cell carcinoma.
abstract: The study of hereditary RCC syndromes continues to provide significant insight into the pathways that are involved in renal cell tumorigenesis. The clinician should maintain a high level of suspicion for genetic disorders when patients present with early-onset or mult-focal RCC. Recognition of familial syndromes will facilitate the institution of parenchymal sparing measures, as well as appropriate screening and intervention for associated nonrenal manifestations.
authors.affiliation: Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Building 10/2B47, Bethesda, MD 20892, USA.
authors.forename: Jodi K
authors.initials: JK
authors.lastname: Maranchie
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008025:Ligases / Q000235:genetics; D013577:Syndrome; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics
chemical_list: D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human