Article
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Journal of medical genetics - 21 Mar 2024
Mougel Gregory, Mohamed Amira, Burnichon Nelly, Giraud Sophie, Pigny Pascal, Bressac-de Paillerets Brigitte, Mirebeau-Prunier Delphine, Buffet Alexandre, Savagner Frédérique, Romanet Pauline, Arlot Yannick, Gardie Betty, Gimenez-Roqueplo Anne-Paule, Beroud Christophe, Richard Stephane, Barlier Anne
Abstract excerpt
BACKGROUND: The von Hippel-Lindau (VHL) disease is a hereditary tumour syndrome caused by germline mutations in VHL tumour suppressor gene. The identification of VHL variants requires accurate classification which has an impact on patient management and genetic counselling. METHODS: The TENGEN (French oncogenetics network of neuroendocrine tumors) and PREDIR (French National Cancer Institute network for Inherited...
Topics
- Humans
- Von Hippel-Lindau Tumor Suppressor Protein
- Genetic Testing
- Genetic Predisposition to Disease
- von Hippel-Lindau Disease
- Genetic Association Studies
- Kidney Neoplasms
- Germ-Line Mutation