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Mutations in theVHLtumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe

✍ Scribed by Damjan Glavač; Hartmut P. H. Neumann; Claudia Wittke; Hendrik Jaenig; Otakar Mašek; Teodor Streicher; Friederike Pausch; Dieter Engelhardt; Karl H. Plate; Heinz Höfler; Fan Chen; Berton Zbar; Hiltrud Brauch

Book ID
106136425
Publisher
Springer
Year
1996
Tongue
English
Weight
175 KB
Volume
98
Category
Article
ISSN
0340-6717

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Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 3001469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected. Most of the germline VHL mutations (124/137) occurred in 1-2 famil

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Communicated by Victor A. McKusick von Hippel-Lindau disease (VHL) is an inherited neoplastic disorder characterized by the development of tumors in the eyes, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis. The VHL tumor suppressor gene was identified in 1993. Initial