Genetic kidney cancer syndromes

Thai H. Ho, Eric Jonasch

Research output: Contribution to journalReview article

14 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1347-1355
Number of pages9
JournalJNCCN Journal of the National Comprehensive Cancer Network
Volume12
Issue number9
DOIs
StatePublished - Sep 1 2014

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ASJC Scopus subject areas

  • Oncology

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