High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil

Von Hippel-Lindau disease (VHL) (MIM 193300) is a heritable autosomal dominant disease characterised by predisposition to the development of a combination of benign and malignant tumours affecting multiple organs. The main features of the disease include retinal angiomas (RA), haemangioblastomas of the central nervous system (HB), clear cell renal carcinomas (RC), phaeochromocytomas (PH), multiple renal and pancreatic cysts, adenomas and carcinomas of the pancreas, neuroendocrine tumours, endolymphatic sac tumours, and papillary cystadenomas of the epididymis and broad ligaments.1–5 Reported birth incidence ranges from 1:36 000 to 1:45 000.6–8 Penetrance is essentially complete at 65 years of age and subjects at risk may develop a combination of clinical manifestations during their lifetime.6 ### Key points