title: [Genetics and angiogenesis: the example of von Hippel-Lindau disease].
abstract: Von Hippel-Lindau (VHL) disease is the main cause of inherited kidney cancer and the model of tumoral angiogenesis. This rare syndrome is caused by germline mutations of the VHL tumor-suppressor gene that predispose to the development of a panel of highly vascularized tumors. Main manifestations include CNS and retinal haemangioblastomas, endolymphatic sac tumors, clear-cell renal cell carcinomas (RCC), phaeochromocytomas and pancreatic neuroendocrine tumors. The VHL gene plays a major role in regulation of the oxygen-sensing pathway by targeting the hypoxia-inducible factor HIF for degradation in proteasome. Somatic inactivation of the VHL gene occurs also in most sporadic RCC. Recent progress are pawing the way for the development of antiangiogenic targeted therapies that have already shown promising results in metastatic sporadic RCC.
authors.affiliation: Laboratoire de génétique oncologique Ephe, CNRS FRE 2939, Faculté de Médecine Paris-Sud, 94276 Le Kremlin-Bicêtre et Institut de cancérologie Gustave Roussy, 94800 Villejuif. stephane.richard@kb.u-psud.fr
authors.forename: Stéphane
authors.initials: S
authors.lastname: Richard
authors.forename: Charline
authors.initials: C
authors.lastname: Ladroue
authors.forename: Sophie
authors.initials: S
authors.lastname: Gad
authors.forename: Sophie
authors.initials: S
authors.lastname: Giraud
authors.forename: Betty
authors.initials: B
authors.lastname: Gardie
mesh_terms: D000818:Animals; D016543:Central Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D016147:Genes, Tumor Suppressor / Q000502:physiology; D018095:Germ-Line Mutation / Q000235:genetics; D018325:Hemangioblastoma / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology / Q000628:therapy; D009154:Mutation / Q000235:genetics; D009389:Neovascularization, Pathologic / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics / Q000473:pathology / Q000628:therapy; D010673:Pheochromocytoma / Q000235:genetics / Q000473:pathology / Q000628:therapy; D011086:Polycythemia / Q000235:genetics; D019572:Retinal Neoplasms / Q000235:genetics / Q000473:pathology / Q000628:therapy; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein