Genetic disorders and renal cell carcinoma

Urol Clin North Am. 2003 Feb;30(1):133-41. doi: 10.1016/s0094-0143(02)00120-9.


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.

Publication types

  • Review

MeSH terms

  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Predisposition to Disease*
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Ligases / genetics
  • Syndrome
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / genetics


  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human