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JOURNAL ARTICLE
RESEARCH SUPPORT, N.I.H., EXTRAMURAL
RESEARCH SUPPORT, NON-U.S. GOV'T
REVIEW
The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer.
Nature Reviews. Cancer 2008 November
The von Hippel-Lindau disease is caused by inactivating germline mutations of the VHL tumour suppressor gene and is associated with an increased risk of a variety of tumours in an allele-specific manner. The role of the heterodimeric transcription factor hypoxia-inducible factor (HIF) in the pathogenesis of VHL-defective tumours has been more firmly established during the past 5 years. In addition, there is now a greater appreciation of HIF-independent VHL functions that are relevant to tumour development, including maintenance of the primary cilium, regulation of extracellular matrix formation and turnover, and modulation of cell death in certain cell types following growth factor withdrawal or in response to other forms of stress.
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