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
-
Efficacy of Therapy with c-Met/HGF Inhibitors in Solid Tumors: A Systematic Review Based on 24 Clinical Trials
Clinical Cancer Drugs Defensins: Key Molecules in Ocular Surface Protection
Current Immunology Reviews (Discontinued) Integrins in Bone Metastasis Formation and Potential Therapeutic Implications
Current Cancer Drug Targets Overview of Mechanisms of Cancer Stem Cell Drug Resistance
Current Signal Transduction Therapy Prognostic and Predictive Biomarkers in Colorectal Cancer. From the Preclinical Setting to Clinical Practice
Current Cancer Drug Targets Mechanisms for Targeted Delivery of Nanoparticles in Cancer
Current Pharmaceutical Design An Overview of the Pharmacological Properties and Potential Applications of Natural Monoterpenes
Mini-Reviews in Medicinal Chemistry The Role of Pemetrexed Combined with Targeted Agents for Non-Small Cell Lung Cancer
Current Drug Targets Natural Compounds as Anticancer Agents Targeting DNA Topoisomerases
Current Genomics Green Approaches for Cancers Management: An Effective Tool for Health Care
Anti-Cancer Agents in Medicinal Chemistry The Stem Cell Factor Receptor/c-Kit as a Drug Target in Cancer
Current Cancer Drug Targets Anti-cancer and Other Bioactivities of Korean Angelica gigas Nakai (AGN) and Its Major Pyranocoumarin Compounds
Anti-Cancer Agents in Medicinal Chemistry Tumor Escape from Immune Response: Mechanisms and Targets of Activity
Current Drug Targets Plasminogen Activator System and Vascular Disease
Current Vascular Pharmacology Tumor Angiogenesis and VEGFR-2: Mechanism, Pathways and Current Biological Therapeutic Interventions
Current Drug Metabolism Status of Programmed Death Ligand 1 (PD-L1) by Immunohistochemistry and Scoring Algorithms
Current Drug Targets Anti-Shock Garments for Obstetric Hemorrhage
Current Women`s Health Reviews Endoplasmic Reticulum Stress in Arterial Smooth Muscle Cells: A Novel Regulator of Vascular Disease
Current Cardiology Reviews Impact of Renin-Angiotensin System in Hepatocellular Carcinoma
Current Cancer Drug Targets Recent Trends in Targeted Anticancer Prodrug and Conjugate Design
Current Medicinal Chemistry