Genetic disorders and renal cell carcinoma.
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.
Maranchie
Jodi K
JK
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Building 10/2B47, Bethesda, MD 20892, USA.
Linehan
W Marston
WM
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
D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human