Showing papers by "Guy A. Rouleau published in 1988"
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Harvard University1, Letterman Army Medical Center2, Indiana University3, University of Hawaii4, University of Kansas5, Erasmus University Rotterdam6, Icahn School of Medicine at Mount Sinai7, Duke University8, Memorial University of Newfoundland9, Rutgers University10, University of Massachusetts Medical School11, Wayne State University12, University of Colorado Denver13, University of Iowa14
TL;DR: The VHL gene is linked to the locus encoding the human homologoue of the RAF1 oncogene, which maps to chromosome 3p25 (ref. 4), which suggests that the defect responsible for the VHL phenotype is not a mutation in the RAF 1 gene itself.
Abstract: 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.
611 citations
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TL;DR: Results of studies suggest that a common molecular mechanism — loss of regions of chromosome 22 possibly containing a tumor suppressor gene — is associated with several tumor types including Schwannomas, neurofibromas, meningiomas, and astrocytomas.
34 citations
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3 citations