Mutations of the VHL tumour suppressor gene in renal carcinoma
| Autor: | C. Florence, K. Tory, Rudy Pozzatti, Michael I. Lerman, James D. Brooks, James R. Gnarra, W. M. Linehan, Berton Zbar, S. Liu, Haiyan I. Li, F. Chen, Yongkai Weng, S. Pomer, H.B. Grossman, Fuh Mei Duh, William B. Isaacs, D. R. Duan, Laura S. Schmidt, Farida Latif, M. M. Walther, Irina A. Lubensky, Ming-Hui Wei, Hiltrud Brauch, Neil H. Bander |
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| Rok vydání: | 1994 |
| Předmět: |
medicine.medical_specialty
von Hippel-Lindau Disease endocrine system diseases DNA Mutational Analysis Molecular Sequence Data Biology urologic and male genital diseases Loss of heterozygosity Internal medicine Von Hippel–Lindau tumor suppressor Genetics medicine Carcinoma Humans Genes Tumor Suppressor Von Hippel–Lindau disease neoplasms Sequence Deletion Kidney Base Sequence Epithelioma Neoplasms Second Primary DNA Neoplasm medicine.disease Kidney Neoplasms female genital diseases and pregnancy complications medicine.anatomical_structure Endocrinology Organ Specificity Mutation Cancer research biology.protein Adenocarcinoma VHL Gene Mutation Polymorphism Restriction Fragment Length Adenocarcinoma Clear Cell |
| Zdroj: | Nature Genetics. 7:85-90 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng0594-85 |
| Popis: | Multiple, bilateral renal carcinomas are a frequent occurrence in von Hippel-Lindau (VHL) disease. To elucidate the aetiological role of the VHL gene in human kidney tumorigenesis, localized and advanced tumours from 110 patients with sporadic renal carcinoma were analysed for VHL mutations and loss of heterozygosity (LOH). VHL mutations were identified in 57% of clear cell renal carcinomas analysed and LOH was observed in 98% of those samples. Moreover, VHL was mutated and lost in a renal tumour from a patient with familial renal carcinoma carrying the constitutional translocation, t(3;8)(p14;q24). The identification of VHL mutations in a majority of localized and advanced sporadic renal carcinomas and in a second form of hereditary renal carcinoma indicates that the VHL gene plays a critical part in the origin of this malignancy. |
| Databáze: | OpenAIRE |
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