SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE VHL GENE

VHL is a tumor suppressor gene localized on chromosome 3p25-26. Mutati ons of the VHL gene were described at first in the heritable von Hippe l-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 be en identified, These mutations are mainly private with only one hot sp ot at codon 167 associated with pheochromocytoma, The germline mutatio ns are essentially missense while somatic mutations include deletions, insertions and nonsense. To standardize the collection of these infor mations, facilitate the mutational analysis of the VHL gene and promot e the genotype-phenotype analysis, a software package along with a com puterized database have been created, The current database and the ana lysis software are accessible via the internet and world wide web inte rface at the URL: http://www.umd.necker.fr.