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
-
Dual EGFR and COX-2 Inhibition as a Novel Approach to Targeting Head and Neck Squamous Cell Carcinoma
Current Cancer Drug Targets Protein Kinase CK2 in Human Diseases
Current Medicinal Chemistry Altering the Sphingosine-1-Phosphate/Ceramide Balance: A Promising Approach for Tumor Therapy
Current Pharmaceutical Design Editorial [Hot topic: Cell Adhesion Molecules: Structure, Function, Drug Design, and Biomaterials (Executive Editor: Seetharama D. Satyanarayanajois)]
Current Pharmaceutical Design Evaluation of Cytotoxic and Tyrosinase Inhibitory Activities of 2-phenoxy(thiomethyl) pyridotriazolopyrimidines: In Vitro and Molecular Docking Studies
Anti-Cancer Agents in Medicinal Chemistry CCR5 as a Potential Target in Cancer Therapy: Inhibition or Stimulation?
Anti-Cancer Agents in Medicinal Chemistry Immunotherapy and Cancer Vaccines in the Management of Breast Cancer
Current Pharmaceutical Design Tannic Acid Inhibits Proliferation, Migration, Invasion of Prostate Cancer and Modulates Drug Metabolizing and Antioxidant Enzymes
Anti-Cancer Agents in Medicinal Chemistry Anti-Cancer Approach with NK4: Bivalent Action and Mechanisms
Anti-Cancer Agents in Medicinal Chemistry Transient Opening of the Blood-Brain Barrier by Vasoactive Peptides to Increase CNS Drug Delivery: Reality Versus Wishful Thinking?
Current Neuropharmacology Application of Monoclonal Antibodies as Cancer Therapy in Solid Tumors
Current Clinical Pharmacology Curcumin Potentiates The Ability of Sunitinib to Eliminate the VHL-lacking Renal Cancer Cells 786-O: Rapid Inhibition of Rb Phosphorylation as a Preamble to Cyclin D1 Inhibition
Anti-Cancer Agents in Medicinal Chemistry Current Trends in Cancer Biomarker Discovery Using Urinary Metabolomics: Achievements and New Challenges
Current Medicinal Chemistry Intracellular Drug Delivery: Mechanisms for Cell Entry
Current Pharmaceutical Design Anticancer Drugs Designed by Mother Nature: Ancient Drugs but Modern Targets
Current Pharmaceutical Design Cyclodepsipeptides - Potential Drugs and Lead Compounds in the Drug Development Process
Current Medicinal Chemistry Surgical Management of Mullerian Duct Anomalies
Current Women`s Health Reviews miRNAs in Cancer Prevention and Treatment and as Molecular Targets for Natural Product Anticancer Agents
Current Cancer Drug Targets The Effects of Weightlessness on the Human Organism and Mammalian Cells
Current Molecular Medicine Multifunctional Anti-Cancer Nano-Platforms are Moving to Clinical Trials
Current Drug Metabolism