Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3

Hosoe, Shigeto; Brauch, Hiltrud; Latif, Farida; Glenn, Gladys; Daniel, G.; Bale, Sherri J.; Choyke, Peter L.; Gorin, Michael B.; Oldfield, Edward H.; Berman, Arlene; Goodman, Jack; Orcutt, M.L.; Hampsch, K.; Dllisio, John; Modi, William S.; Mcbride, Wesley; Anglard, Patrick; Weiss, Gary H.; Walther, McClellan M.; Linehan, W. Marston; Lerman, Michael I.; Zbar, Berton

doi:10.1016/0888-7543(90)90249-t

Cited by 132 publications

(53 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Affected patients not only have a high probability of developing RCC (70% at age 60 years), but also have an early age at onset and frequently develop multiple tumours (Maher et al, 1990a, b). The gene for VHL disease has been mapped to chromosome 3p25-p26 (Seizinger et al, 1988;Hosoe et al, 1990;Seizinger et al, 1991a;Crossey et al, 1993a;Richards et al, 1993) and appears to function as a tumour-suppressor gene (Tory et al, 1989;Maher et al, 1990b;Crossey et al, 1993b;Latif et al, 1993). Another familial RCC gene (RCCI) also maps to the short arm of chromosome 3: Cohen et al (1979) reported a large family in which a balanced translocation between chromosome 3 and 8 was associated with a predisposition to early-onset multicentric RCC.…”

mentioning

confidence: 99%

Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

Foster

Crossey²,

Cairns³

et al. 1994

Br J Cancer

View full text Add to dashboard Cite

Summary To investigate the role of tumour-suppressor genes on the short arm of chromosome 3 in the mechanism of tumorigenesis in non-familial renal cell carcinoma, we analysed 55 paired blood-tumour DNA samples for allele loss on chromosome 3p and in the region of known or putative tumour-suppressor genes on chromosomes 5, 11, 17 and 22. Sixty-four per cent (35/55) of informative tumours showed loss of heterozygosity (LOH) of at least one locus on the short arm of chromosome 3, compared with only 13% at the p53 tumour-suppressor gene and 6% at 17q21. LOH at chromsome 5q21 and 22q was uncommon (2-3%). Detailed analysis of the regions of LOH on chromsome 3p suggested that, in addition to the VHL gene in chromosome 3p25-p26, mutations in one or more tumour-suppressor genes in chromosome 3pl3-p24 may be involved in the pathogenesis of sporadic renal cell carcinoma (RCC). We also confirmed previous suggestions that chromosome 3p allele loss is not a feature of papillary RCC (P<0.05).

show abstract

mentioning

confidence: 99%

Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

Foster

Crossey²,

Cairns³

et al. 1994

Br J Cancer

View full text Add to dashboard Cite

show abstract

“…The VHL gene has been shown to be linked to RAF1, a locus on chromosome 3 (Seizinger et al 1988;Vance et al 1990, Hosoe et al 1991. Recent studies suggest that VHL is located in a 6-8 centimorgan interval between RAF1 and D3S18 (Hosoe et al 1991). The VHL gene appears to function as a tumor suppressor gene; the unmasking of the VHL gene by loss of the wild-type allele has been demonstrated in renal cell carcinomas associated with VHL (Tory et al 1989).…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus

Choyke

et al. 1991

Hum Genet

Self Cite

View full text Add to dashboard Cite

Summary. As part of an attempt to locate the vonHippel-Lindau locus (VHL) on chromosome 3, we evaluated 41 families with yon Hippel-Lindau disease from the United States and Canada. One large family was identified whose disease phenotype was distinct from typical VHL. The most common disease manifestation was pheochromocytoma occuring in 57% (27/47) of affected family members. Few (4/47) affected family members had symptomatic spinal or cerebellar hemangioblastomas; no affected family member had renal cell carcinoma (0/47) or pancreatic cysts (0/24). Previously, genetic analysis demonstrated that the disease manifestations in this family were linked to RAF1 and D3S18, markers shown to be linked to typical VHL. These results suggest that there are mutant alleles at the VHL locus associated with distinct tissue specificities.

show abstract

“…(12)(13)(14) Genetic Analysis of VHL syndrome and the VHL Gene Genetic linkage analysis was performed on numerous VHL families that localized and subsequently identify the gene for von Hippel-Lindau syndrome (VHL) on the short arm of chromosome 3 at 3p21.4. (15,16) Germline mutations in the VHL gene have been found in nearly 100% of VHL families. (17) In order to determine if mutation of the VHL gene was also associated with non-inherited forms of kidney cancer, VHL gene mutation analysis was performed in tumors from patients with sporadic, non-hereditary kidney cancer.…”

Section: : An Introduction To Kidney Cancermentioning

confidence: 99%

The Metabolic Basis of Kidney Cancer

Srinivasan¹,

George²,

Linehan³

2015

Kidney Cancer

View full text Add to dashboard Cite

Kidney cancer is not a single disease; it is made up of a number of different types of cancer that occur in the kidney. Each of these different types of kidney cancer can have a different histology, have a different clinical course, can respond differently to therapy and is caused by a different gene. Kidney cancer is essentially a metabolic disease; each of the known genes for kidney cancer, VHL, MET, FLCN, TSC1, TSC2, TFE3, TFEB, MITF, fumarate hydratase (FH), succinate dehydrogenase B (SDHB), succinate dehydrogenase D (SDHD), and PTEN genes is involved in the cells ability to sense oxygen, iron, nutrients or energy. Understanding the metabolic basis of kidney cancer will hopefully provide the foundation for the development of effective forms of therapy for this disease.

show abstract

Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3

Cited by 132 publications

References 26 publications

Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus

The Metabolic Basis of Kidney Cancer

Contact Info

Product

Resources

About