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VHL, the story of a tumour suppressor gene

  • Lucy Gossage
  • , Tim Eisen
  • , Eamonn R. Maher*
  • *Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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Abstract

Since the Von Hippel-Lindau (VHL) disease tumour suppressor gene VHL was identified in 1993 as the genetic basis for a rare disorder, it has proved to be of wide medical and scientific interest. VHL tumour suppressor protein (pVHL) plays a key part in cellular oxygen sensing by targeting hypoxia-inducible factors for ubiquitylation and proteasomal degradation. Early inactivation of VHL is commonly seen in clear-cell renal cell carcinoma (ccRCC), and insights gained from the functional analysis of pVHL have provided the foundation for the routine treatment of advanced-stage ccRCC with novel targeted therapies. However, recent sequencing studies have identified additional driver genes that are involved in the pathogenesis of ccRCC. As our understanding of the importance of VHL matures, it is timely to review progress from its initial description to current knowledge of VHL biology, as well as future prospects for novel medical treatments for VHL disease and ccRCC.

Original languageEnglish
Pages (from-to)55-64
Number of pages10
JournalNature Reviews Cancer
Volume15
Issue number1
Early online date23 Dec 2014
DOIs
Publication statusPublished - 11 Jan 2015

Funding

Funders
NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
National Institute for Health Research
European Research Council

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