title: Genetic kidney cancer syndromes.
abstract: Hereditary forms of renal cell carcinoma (RCC) have yielded clues regarding the molecular pathogenesis of sporadic RCC. The discovery of germline mutations in chromatin-modulating enzymes also defined a new hereditary RCC syndrome. Although histologically distinct RCC subtypes exist, emerging themes shared between hereditary and sporadic RCC include dysregulation of the von Hippel-Lindau tumor suppressor protein/hypoxia inducible factor axis, defective ciliogenesis, and aberrant tumor metabolism. This article describes the most common hereditary RCC syndromes and associated extrarenal manifestations. Recent evidence supports developing screening guidelines for early-onset RCC to identify persons with germline mutations in the absence of secondary clinical manifestations.
authors.affiliation: From the Division of Hematology and Oncology, Mayo Clinic, Scottsdale, Arizona, and Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
authors.forename: Thai H
authors.initials: TH
authors.lastname: Ho
authors.affiliation: From the Division of Hematology and Oncology, Mayo Clinic, Scottsdale, Arizona, and Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
authors.forename: Eric
authors.initials: E
authors.lastname: Jonasch
mesh_terms: D017668:Age of Onset; D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics*; D055088:Early Detection of Cancer; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics*