Current Urology Reports

, Volume 12, Issue 1, pp 47–55

Impact of Genetics on the Diagnosis and Treatment of Renal Cancer

  • Eric A. Singer
  • Gennady Bratslavsky
  • Lindsay Middelton
  • Ramaprasad Srinivasan
  • W. Marston Linehan


Kidney cancer is a heterogeneous disease comprised of a number of histologic subtypes, each associated with unique genetic mutations, clinical features, and sensitivity to treatment. By examining families affected with the hereditary kidney cancer syndromes von Hippel-Lindau, hereditary papillary renal cell carcinoma, hereditary leiomyomatosis and renal cell carcinoma, and Birt-Hogg-Dubé, researchers have been able to identify the genes responsible for these syndromes. This work has revealed that kidney cancer is fundamentally a metabolic disorder, and as such, novel targeted therapies specific to their molecular biology have been developed and employed in both the hereditary and sporadic forms of renal cell carcinoma.


Kidney cancer Genetics von Hippel-Lindau VHL Hereditary papillary renal carcinoma HPRC Hereditary leiomyomatosis and renal cell carcinoma HLRCC Birt-Hogg-Dube’ BHD Clear cell Papillary Chromophobe 


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC (outside the USA) 2010

Authors and Affiliations

  • Eric A. Singer
    • 1
  • Gennady Bratslavsky
    • 1
  • Lindsay Middelton
    • 1
  • Ramaprasad Srinivasan
    • 1
  • W. Marston Linehan
    • 1
  1. 1.Department of Health and Human Services, Urologic Oncology Branch, Center for Cancer Research, National Cancer InstituteNational Institutes of HealthBethesdaUSA

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