Von hippel lindau syndrome

Jenny J. Kim, Brian I. Rini, Donna E. Hansel

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Abstract Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature. Incidence of VHLS is roughly 1 in 36,000 live births and has over 90% penetrance by the age of 65. Improved understanding of the natural history and biology of VHLS has led to the introduction of screening protocols, early interventions and improved treatments, all of which resulted in a substantially improved prognosis for this disease. Further details regarding variegated molecular pathways and mechanisms of VHLS are emerging with the subsequent advent of novel treatment protocols that are currently in clinical trials.

Original languageEnglish (US)
Title of host publicationDiseases of DNA Repair
EditorsShamim Ahmad
Pages228-249
Number of pages22
DOIs
StatePublished - Dec 1 2010

Publication series

NameAdvances in Experimental Medicine and Biology
Volume685
ISSN (Print)0065-2598

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    Kim, J. J., Rini, B. I., & Hansel, D. E. (2010). Von hippel lindau syndrome. In S. Ahmad (Ed.), Diseases of DNA Repair (pp. 228-249). (Advances in Experimental Medicine and Biology; Vol. 685). https://doi.org/10.1007/978-1-4419-6448-9_22