Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

von Hippel-Lindau disease.

V Couch1, N M Lindor, P S Karnes

  • 1Department of Medical Genetics, Mayo Clinic Rochester, Minn. 55905, USA.

Mayo Clinic Proceedings
|March 22, 2000
PubMed
Summary

Von Hippel-Lindau (VHL) disease is an inherited disorder causing tumors. This review covers VHL clinical features, diagnostics, and genetics, aiding in better management strategies.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.

Clinical genetics·2015
Same author

Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer.

British journal of cancer·2014
Same author

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Scientific reports·2014
Same author

KRAS-mutation status in relation to colorectal cancer survival: the joint impact of correlated tumour markers.

British journal of cancer·2013
Same author

Is colorectal surveillance indicated in patients with PTEN mutations?

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland·2012
Same author

Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.

British journal of cancer·2011

Area of Science:

  • Oncology
  • Genetics
  • Hereditary Cancer Syndromes

Background:

  • Von Hippel-Lindau (VHL) disease is an autosomal dominant tumor predisposition syndrome.
  • It is characterized by benign and malignant tumors, including retinal angiomas, hemangioblastomas, and renal cell carcinomas.

Purpose of the Study:

  • To discuss the clinical features and diagnostic criteria for VHL disease.
  • To provide an update on molecular genetics and genotype-phenotype correlations in VHL.
  • To explore strategies for managing and treating VHL-associated tumors.

Main Methods:

  • Review of clinical features and diagnostic criteria for VHL disease.
  • Update on recent findings in VHL molecular genetics.
  • Discussion of genotype-phenotype correlations.

Main Results:

  • VHL disease presents with a range of tumors and lesions affecting various organs.
  • Recent genetic findings are refining the understanding of VHL.
  • Evolving genotype-phenotype correlations are emerging.

Conclusions:

  • VHL disease is clinically underdiagnosed.
  • Understanding VHL molecular and functional aspects is crucial for developing effective management and treatment strategies.
  • Further research into genotype-phenotype correlations will improve patient care.

Related Experiment Videos