Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma.

Journal Article (Journal Article)

Von Hippel-Lindau disease (VHL) is an autosomal dominant disorder with inherited susceptibility to various forms of cancer, including hemangioblastomas of the central nervous system, phaeochromocytomas, pancreatic malignancies, and renal cell carcinomas. Renal cell carcinomas constitute a particularly frequent cause of death in this disorder, occurring as bilateral and multifocal tumours, and presenting at an earlier age than in sporadic, non-familial cases of this tumour type. We report here that the VHL gene is linked to the locus encoding the human homologoue of the RAF1 oncogene, which maps to chromosome 3p25 (ref. 4). Crossovers with the VHL locus suggest that the defect responsible for the VHL phenotype is not a mutation in the RAF1 gene itself. An alternative or prior event to oncogene activation in tumour formation may be the inactivation of a putative 'tumour suppressor' which can be associated with both the inherited and sporadic forms of the cancer. Sporadic renal cell carcinomas have previously been associated with the loss of regions on chromosome 3p (refs 5, 6). Consequently, sporadic and VHL-associated forms of renal cell carcinoma might both result from alterations causing loss of function of the same 'tumour suppressor' gene on this chromosome.

Full Text

Duke Authors

Cited Authors

  • Seizinger, BR; Rouleau, GA; Ozelius, LJ; Lane, AH; Farmer, GE; Lamiell, JM; Haines, J; Yuen, JW; Collins, D; Majoor-Krakauer, D

Published Date

  • March 17, 1988

Published In

Volume / Issue

  • 332 / 6161

Start / End Page

  • 268 - 269

PubMed ID

  • 2894613

International Standard Serial Number (ISSN)

  • 0028-0836

Digital Object Identifier (DOI)

  • 10.1038/332268a0


  • eng

Conference Location

  • England