title: Diagnosis and Management of Hereditary Renal Cell Cancer.
abstract: Renal cell cancer (RCC) is the common denominator for a heterogeneous group of diseases. The subclassification of these tumours is based on histological type and molecular pathogenesis. Insight into molecular pathogenesis has led to the development of targeted systemic therapies. Genetic susceptibility is the principal cause of RCC in about 2-4% of cases. Hereditary RCC is the umbrella term for about a dozen different conditions, the most frequent of which is von Hippel-Lindau disease . Here, we describe the main hereditary RCC syndromes, consider criteria for referral of RCC patients for clinical genetic assessment and discuss management options for patients with hereditary RCC and their at-risk relatives.
authors.affiliation: Antoni van Leeuwenhoek Hospital, The Netherlands Cancer Institute, Amsterdam, The Netherlands. f.menko@nki.nl.
authors.forename: Fred H
authors.initials: FH
authors.lastname: Menko
authors.affiliation: Department of Medical Genetics, University of Cambridge, Cambridge, UK. erm1000@medschl.cam.ac.uk.
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D018570:Risk Assessment
keywords: Hereditary; Management; Molecular pathogenesis; Renal cell cancer