25. Large scale analysis in Von Hippel-Lindau disease

Introduction: Von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome where individuals are at risk of developing tumors in many organs, including the brain, adrenal gland, pancreas and kidneys. It is caused by deleterious mutations in the VHL tumor suppressor gene, although gene variants of unknown significance are often seen in clinical practice. The diversity of VHL patients has made it difficult to collect standardized disease information.