Nucleic Acids Research, Vol 26, Issue 1 256-258, Copyright © 1998 by Oxford University Press
C Beroud, D Joly, C Gallou, F Staroz, MT Orfanelli and C Junien
VHL is a tumor suppressor gene localized on chromosome 3p25-26. Mutations
of the VHL gene were described at first in the heritable von Hippel-Lindau
disease and in the sporadic Renal Cell Carcinoma (RCC). More recently, VHL
has also been shown to harbor mutations in mesothelioma and small cell lung
carcinoma. To date more than 500 mutations have been identified. These
mutations are mainly private with only one hot spot at codon 167 associated
with pheochromocytoma. The germline mutations are essentially missense
while somatic mutations include deletions, insertions and nonsense. To
standardize the collection of these informations, facilitate the mutational
analysis of the VHL gene and promote the genotype-phenotype analysis, a
software package along with a computerized database have been created. The
current database and the analysis software are accessible via the internet
and world wide web interface at the URL:http://www.umd.necker.fr
ARTICLES
Software and database for the analysis of mutations in the VHL gene
INSERM U383, Hopital Necker-Enfants Malades, Universite Rene Descartes Paris V, Paris, France. beroud@necker.fr
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