Abstract
Germline mutations in the VHL tumour suppressor gene may cause a variety of phenotypes including von Hippel-Lindau (VHL) disease, familial phaeochromocytoma and inherited polycythaemia. VHL disease is a multisystem familial cancer syndrome and is the commonest cause of familial renal cell carcinoma (RCC). VHL disease provides a paradigm for illustrating how studies of a rare familial cancer syndrome can produce advances in clinical medicin and important insights into basic biological processes. Thus the identification of the VHL gene has improved the diagnosis and clinical management of VHL disease and provided insights into the pathogenesis of sporadic clear cell RCC. Functional investigations of the VHL gene product have provided novel information on how cells sense oxygen and the role of hypoxia-response pathways in human tumourigenesis. Such information offers prospects of novel therapeutic interventions for VHL disease and common cancers including RCC.
Keywords: von hippel-lindau (vhl) disease, renal cell carcinoma (rcc), mutations, vhl proteins
Current Molecular Medicine
Title: Von Hippel-Lindau Disease
Volume: 4 Issue: 8
Author(s): Eamonn R. Maher
Affiliation:
Keywords: von hippel-lindau (vhl) disease, renal cell carcinoma (rcc), mutations, vhl proteins
Abstract: Germline mutations in the VHL tumour suppressor gene may cause a variety of phenotypes including von Hippel-Lindau (VHL) disease, familial phaeochromocytoma and inherited polycythaemia. VHL disease is a multisystem familial cancer syndrome and is the commonest cause of familial renal cell carcinoma (RCC). VHL disease provides a paradigm for illustrating how studies of a rare familial cancer syndrome can produce advances in clinical medicin and important insights into basic biological processes. Thus the identification of the VHL gene has improved the diagnosis and clinical management of VHL disease and provided insights into the pathogenesis of sporadic clear cell RCC. Functional investigations of the VHL gene product have provided novel information on how cells sense oxygen and the role of hypoxia-response pathways in human tumourigenesis. Such information offers prospects of novel therapeutic interventions for VHL disease and common cancers including RCC.
Export Options
About this article
Cite this article as:
Maher R. Eamonn, Von Hippel-Lindau Disease, Current Molecular Medicine 2004; 4 (8) . https://dx.doi.org/10.2174/1566524043359827
DOI https://dx.doi.org/10.2174/1566524043359827 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
Meet Our Editorial Board Member
Current Pharmacogenomics and Personalized Medicine Chemical and physical factors influencing the dynamics of differentiation in embryonic stem cells
Current Stem Cell Research & Therapy The CXCL12/CXCR4 Axis as a Therapeutic Target in Cancer and HIV-1 Infection
Current Medicinal Chemistry Prodrug Design of Phenolic Drugs
Current Pharmaceutical Design Long Term Prognosis in IgG4-Related Systemic Disease (ISD)
Current Immunology Reviews (Discontinued) Targeting Angiogenic Pathways in Colorectal Cancer: Complexities, Challenges and Future Directions
Current Drug Targets Perspectives in Biomolecular Therapeutic Intervention in Cancer: From the Early to the New Strategies With Type I Interferons
Current Medicinal Chemistry Drug-Delivery Systems of Green Tea Catechins for Improved Stability and Bioavailability
Current Medicinal Chemistry The Effect of HCV Eradication after Direct-Acting Antiviral Agents on Hepatic Steatosis: A Prospective Observational Study
Endocrine, Metabolic & Immune Disorders - Drug Targets Innovation in Contrast Agents for Magnetic Resonance Imaging
Current Medical Imaging Multimerization Improves Targeting of Peptide Radio-Pharmaceuticals
Current Pharmaceutical Design Medicinal and Beneficial Health Applications of Tinospora cordifolia (Guduchi): A Miraculous Herb Countering Various Diseases/Disorders and its Immunomodulatory Effects
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Emerging Role of Apelin as a Therapeutic Target in Cancer: A Patent Review
Recent Patents on Anti-Cancer Drug Discovery Decreasing the Metastatic Potential in Cancers - Targeting the Heparan Sulfate Proteoglycans
Current Drug Targets Multidrug Resistance: Retrospect and Prospects in Anti-Cancer Drug Treatment
Current Medicinal Chemistry Natural Aristolochia Alkaloid Aristololactam-β-D-glucoside: Interaction with Biomacromolecules and Correlation to the Biological Perspectives
Mini-Reviews in Medicinal Chemistry Targeting RANK/RANKL in the Treatment of Solid Tumours and Myeloma
Current Pharmaceutical Design Immunotherapy in Breast Cancer- Paving New Roads?
Current Molecular Pharmacology Aurora A and B Kinases - Targets of Novel Anticancer Drugs
Recent Patents on Anti-Cancer Drug Discovery Benzofuran Small Molecules as Potential Inhibitors of Human Protein Kinases. A Review
Current Pharmaceutical Design