The Von Hippel-Lindau (VHL) tumor-suppressor gene is not mutated in sporadic human colon adenocarcinomas
RIS ID
73244
Abstract
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome, where the affected kindreds manifest multiple tumors, mainly of the central nervous system, renal and pancreatic tissue (Maher and Kaelin, 1997). The gene responsible for the disorder is a tumor-suppressor gene (Latif et al., 1993). Numerous germline mutations of VHL gene have been identified among families with various patterns of disease phenotypes (Zbar et al., 1996). Mutations of VHL, as well as allelic loss at the gene locus 3p25-26, have been repeatedly described in series from sporadic cases of the tumor types involved in VHL disease (Bailly et al., 1995; Lee et al., 1998). Frequent detection of somatic mutations of the gene in renal clear cell carcinoma (Gnarra et al., 1994; Foster et al., 1994; Shuin et al., 1994) and central nervous system hemangioblastomas (Kanno et al., 1994) provides evidence that these events are critical to the pathogenesis of such tumor types. This was further enhanced by the recent association of carcinogen exposure with specific VHL mutations in renal cell carcinoma (Brauch et al., 1999).
Publication Details
Miyakis, S. (2000). The Von Hippel-Lindau (VHL) tumor-suppressor gene is not mutated in sporadic human colon adenocarcinomas. International Journal of Cancer, vol.88, pp503-505.