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

B. R. Seizinger, G. A. Rouleau, L. J. Ozelius, A. H. Lane, G. E. Farmer, J. M. Lamiell, J. Haines, J. W.M. Yuen, D. Collins, D. Majoor-Krakauer, T. Bonner, C. Mathew, A. Rubenstein, J. Halperin, A. McConkie-Rosell, J. S. Green, J. A. Trofatter, B. A. Ponder, L. Eierman, M. I. BowmerR. Schimke, B. Oostra, N. Aronin, D. I. Smith, H. Drabkin, M. H. Waziri, W. J. Hobbs, R. L. Martuza, P. M. Conneally, Y. E. Hsia, J. F. Gusella

Research output: Contribution to journalArticlepeer-review

511 Scopus citations


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 carcinomas1-3. 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.

Original languageEnglish (US)
Pages (from-to)268-269
Number of pages2
Issue number6161
StatePublished - 1988

ASJC Scopus subject areas

  • General


Dive into the research topics of 'Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma'. Together they form a unique fingerprint.

Cite this