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Article

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

American journal of human genetics - 1 Apr 1997

Prowse A H, Webster A R, Richards F M, Richard S, Olschwang S, Resche F, Affara N A, Maher E R

Abstract excerpt

Von Hippel-Lindau (VHL) disease is a dominantly inherited disorder predisposing to retinal and CNS hemangioblastomas, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. Interfamilial differences in predisposition to pheochromocytoma reflect allelic heterogeneity such that there is a strong association between missense mutations and risk of pheochromocytoma. We investigated the mechanism of...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9106522
PMCID: PMC1712486

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.PMID 9106522Read ↗

Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.Semantic proximity Read ↗

Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer.Semantic proximity Read ↗

Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas.Semantic proximity Read ↗

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.Semantic proximity Read ↗

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.Semantic proximity Read ↗

Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease.Semantic proximity Read ↗

Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours.Semantic proximity Read ↗

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.Semantic proximity Read ↗

Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.Semantic proximity Read ↗

Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system.Semantic proximity Read ↗

Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.Semantic proximity Read ↗

Molecular genetic analysis of von Hippel-Lindau disease.Semantic proximity Read ↗

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