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Ref Type Journal Article
PMID (25533676)
Authors Gossage L, Eisen T, Maher ER
Title VHL, the story of a tumour suppressor gene.
Journal Nature reviews. Cancer
Vol 15
Issue 1
Date 2015 Jan
URL
Abstract Text 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.

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Molecular Profile Treatment Approach
VHL F148fs VEGFR Inhibitor (Pan)
VHL negative VEGFR2 Inhibitor
VHL L116fs VEGFR2 Inhibitor
VHL D126N VEGFR2 Inhibitor
VHL T202* VEGFR2 Inhibitor
VHL S65W VEGFR Inhibitor (Pan)
VHL C162W VEGFR Inhibitor (Pan)
VHL C162F VEGFR Inhibitor (Pan)
VHL R82P VEGFR Inhibitor (Pan)
VHL P154L VEGFR Inhibitor (Pan)
VHL S111N VEGFR Inhibitor (Pan)
VHL E52fs VEGFR Inhibitor (Pan)
VHL Q132fs VEGFR2 Inhibitor
VHL L158fs VEGFR Inhibitor (Pan)
VHL V155fs VEGFR2 Inhibitor
VHL R64P VEGFR Inhibitor (Pan)
VHL K171G VEGFR Inhibitor (Pan)
VHL W117R VEGFR Inhibitor (Pan)
VHL R161P VEGFR Inhibitor (Pan)
VHL V62fs VEGFR Inhibitor (Pan)
VHL R167W VEGFR Inhibitor (Pan)
VHL S111N VEGFR2 Inhibitor
VHL inact mut VEGFR Inhibitor (Pan)
VHL R69C VEGFR Inhibitor (Pan)
VHL G144fs VEGFR2 Inhibitor
VHL G144fs VEGFR Inhibitor (Pan)
VHL loss VEGFR2 Inhibitor
VHL F119L VEGFR2 Inhibitor
VHL F119L VEGFR Inhibitor (Pan)
VHL loss VEGFR Inhibitor (Pan)
VHL N131fs VEGFR Inhibitor (Pan)
VHL S68W VEGFR2 Inhibitor
VHL Q132fs VEGFR Inhibitor (Pan)
VHL Q96* VEGFR2 Inhibitor
VHL T202* VEGFR Inhibitor (Pan)
VHL del VEGFR Inhibitor (Pan)
VHL L158fs VEGFR2 Inhibitor
VHL F136L VEGFR2 Inhibitor
VHL L116fs VEGFR Inhibitor (Pan)
VHL V62fs VEGFR2 Inhibitor
VHL L198* VEGFR2 Inhibitor
VHL S65* VEGFR Inhibitor (Pan)
VHL S68fs VEGFR2 Inhibitor
VHL N78S VEGFR Inhibitor (Pan)
VHL D126N VEGFR Inhibitor (Pan)
VHL L158S VEGFR Inhibitor (Pan)
VHL L158P VEGFR Inhibitor (Pan)
VHL V155fs VEGFR Inhibitor (Pan)
VHL L158S VEGFR2 Inhibitor
VHL H115Q VEGFR Inhibitor (Pan)
VHL G114R VEGFR2 Inhibitor
VHL R82P VEGFR2 Inhibitor
VHL F148Lfs*11 VEGFR2 Inhibitor
VHL H115R VEGFR Inhibitor (Pan)
VHL N78S VEGFR2 Inhibitor
VHL Y112H VEGFR2 Inhibitor
VHL C77* VEGFR Inhibitor (Pan)
VHL H115R VEGFR2 Inhibitor
VHL P81S VEGFR2 Inhibitor
VHL W117C VEGFR2 Inhibitor
VHL K171G VEGFR2 Inhibitor
VHL L198* VEGFR Inhibitor (Pan)
VHL C77* VEGFR2 Inhibitor
VHL S68W VEGFR Inhibitor (Pan)
VHL S68fs VEGFR Inhibitor (Pan)
VHL S111R VEGFR Inhibitor (Pan)
VHL R64P VEGFR2 Inhibitor
VHL F136L VEGFR Inhibitor (Pan)
VHL F148fs VEGFR2 Inhibitor
VHL R161P VEGFR2 Inhibitor
VHL N90I VEGFR2 Inhibitor
VHL R167W VEGFR2 Inhibitor
VHL S183L VEGFR Inhibitor (Pan)
VHL E70* VEGFR Inhibitor (Pan)
VHL I206* VEGFR2 Inhibitor
VHL S68* VEGFR2 Inhibitor
VHL R161G VEGFR2 Inhibitor
VHL S65L VEGFR Inhibitor (Pan)
VHL S111R VEGFR2 Inhibitor
VHL W88* VEGFR Inhibitor (Pan)
VHL L158P VEGFR2 Inhibitor
VHL N90I VEGFR Inhibitor (Pan)
VHL P86H VEGFR2 Inhibitor
VHL Y98N VEGFR2 Inhibitor
VHL L188V VEGFR Inhibitor (Pan)
VHL C162W VEGFR2 Inhibitor
VHL S65W VEGFR2 Inhibitor
VHL E70* VEGFR2 Inhibitor
VHL Y98H VEGFR2 Inhibitor
VHL Y112N VEGFR Inhibitor (Pan)
VHL S65* VEGFR2 Inhibitor
VHL P154L VEGFR2 Inhibitor
VHL P81S VEGFR Inhibitor (Pan)
VHL L184P VEGFR2 Inhibitor
VHL Q195* VEGFR Inhibitor (Pan)
VHL del VEGFR2 Inhibitor
VHL F148Lfs*11 VEGFR Inhibitor (Pan)
VHL N131fs VEGFR2 Inhibitor
VHL P86H VEGFR Inhibitor (Pan)
VHL W88* VEGFR2 Inhibitor
VHL R161G VEGFR Inhibitor (Pan)
VHL S65L VEGFR2 Inhibitor
VHL S68* VEGFR Inhibitor (Pan)
VHL inact mut VEGFR2 Inhibitor
VHL W117C VEGFR Inhibitor (Pan)
VHL negative VEGFR Inhibitor (Pan)
VHL L188V VEGFR2 Inhibitor
VHL R167Q VEGFR Inhibitor (Pan)
VHL C162F VEGFR2 Inhibitor
VHL S183L VEGFR2 Inhibitor
VHL H115Q VEGFR2 Inhibitor
VHL W117R VEGFR2 Inhibitor
VHL L163P VEGFR2 Inhibitor
VHL I206* VEGFR Inhibitor (Pan)
VHL Q195* VEGFR2 Inhibitor
VHL Y98H VEGFR Inhibitor (Pan)
VHL Y112H VEGFR Inhibitor (Pan)
VHL Y98N VEGFR Inhibitor (Pan)
VHL R69C VEGFR2 Inhibitor
VHL G114R VEGFR Inhibitor (Pan)
VHL Q96* VEGFR Inhibitor (Pan)
VHL R167Q VEGFR2 Inhibitor
VHL Y112N VEGFR2 Inhibitor
VHL E52fs VEGFR2 Inhibitor
VHL L184P VEGFR Inhibitor (Pan)
VHL L163P VEGFR Inhibitor (Pan)
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References