Mutations of the VHL tumour suppressor gene in renal carcinoma

J. R. Gnarra; K. Tory; Y. Weng; L. Schmidt; M. H. Wei; H. Li; F. Latif; S. Liu; F. Chen; F. M. Duh; I. Lubensky; D. R. Duan; C. Florence; R. Pozzatti; M. M. Walther; N. H. Bander; H. B. Grossman; H. Brauch; S. Pomer; J. D. Brooks; W. B. Isaacs; M. I. Lerman; B. Zbar; W. M. Linehan

doi:10.1038/ng0594-85

Mutations of the VHL tumour suppressor gene in renal carcinoma

J. R. Gnarra, K. Tory, Y. Weng, L. Schmidt, M. H. Wei, H. Li, F. Latif, S. Liu, F. Chen, F. M. Duh, I. Lubensky, D. R. Duan, C. Florence, R. Pozzatti, M. M. Walther, N. H. Bander, H. B. Grossman, H. Brauch, S. Pomer, J. D. BrooksW. B. Isaacs, M. I. Lerman, B. Zbar, W. M. Linehan

School of Medicine

Research output: Contribution to journal › Article › peer-review

1423 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	85-90
Number of pages	6
Journal	Nature genetics
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/ng0594-85
State	Published - May 1994

ASJC Scopus subject areas

Genetics

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Gnarra, J. R., Tory, K., Weng, Y., Schmidt, L., Wei, M. H., Li, H., Latif, F., Liu, S., Chen, F., Duh, F. M., Lubensky, I., Duan, D. R., Florence, C., Pozzatti, R., Walther, M. M., Bander, N. H., Grossman, H. B., Brauch, H., Pomer, S., ... Linehan, W. M. (1994). Mutations of the VHL tumour suppressor gene in renal carcinoma. Nature genetics, 7(1), 85-90. https://doi.org/10.1038/ng0594-85

Gnarra, JR, Tory, K, Weng, Y, Schmidt, L, Wei, MH, Li, H, Latif, F, Liu, S, Chen, F, Duh, FM, Lubensky, I, Duan, DR, Florence, C, Pozzatti, R, Walther, MM, Bander, NH, Grossman, HB, Brauch, H, Pomer, S, Brooks, JD, Isaacs, WB, Lerman, MI, Zbar, B & Linehan, WM 1994, 'Mutations of the VHL tumour suppressor gene in renal carcinoma', Nature genetics, vol. 7, no. 1, pp. 85-90. https://doi.org/10.1038/ng0594-85

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title = "Mutations of the VHL tumour suppressor gene in renal carcinoma",

abstract = "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.",

author = "Gnarra, {J. R.} and K. Tory and Y. Weng and L. Schmidt and Wei, {M. H.} and H. Li and F. Latif and S. Liu and F. Chen and Duh, {F. M.} and I. Lubensky and Duan, {D. R.} and C. Florence and R. Pozzatti and Walther, {M. M.} and Bander, {N. H.} and Grossman, {H. B.} and H. Brauch and S. Pomer and Brooks, {J. D.} and Isaacs, {W. B.} and Lerman, {M. I.} and B. Zbar and Linehan, {W. M.}",

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AU - Gnarra, J. R.

AU - Tory, K.

AU - Weng, Y.

AU - Schmidt, L.

AU - Wei, M. H.

AU - Li, H.

AU - Latif, F.

AU - Liu, S.

AU - Chen, F.

AU - Duh, F. M.

AU - Lubensky, I.

AU - Duan, D. R.

AU - Florence, C.

AU - Pozzatti, R.

AU - Walther, M. M.

AU - Bander, N. H.

AU - Grossman, H. B.

AU - Brauch, H.

AU - Pomer, S.

AU - Brooks, J. D.

AU - Isaacs, W. B.

AU - Lerman, M. I.

AU - Zbar, B.

AU - Linehan, W. M.

PY - 1994/5

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AB - 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.

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Mutations of the VHL tumour suppressor gene in renal carcinoma

Abstract

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