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Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect |
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| Authors: | Hiltrud Brauch Takeshi Kishida Damjan Glavac Fan Chen Friederike Pausch Heinz Höfler Farida Latif Michael I Lerman Berton Zbar Hartmut P H Neumann |
| Institution: | (1) Institute of Pathology, Laboratory of Molecular Pathology, Technical University Munich, D-81675 Trogerstrasse 32, Munich, Germany;(2) Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research Facility, 21702-1201 Frederick, MD, USA;(3) National Institute of Chemistry, Ljubljana, Slovenia;(4) Program Resources, Inc./DynCorp, National Cancer Institute-Frederick Cancer Research and Development Center, 21702-1201 Frederick, MD, USA;(5) Department of Medicine, Division of Nephrology and Hypertension, Albert Ludwig University Freiburg, D-79106 Freiburg, Germany |
| Abstract: | We identified a germline missense mutation at nucleotide 505 (T to C) of the VHL tumor suppressor gene in 14, apparently unrelated, VHL type 2A families from the Black Forest region of Germany. This mutation was previously identified in two VHL 2A families living in Pennsylvania (USA). All affected individuals in the 16 families shared the same VHL haplotype indicating a founder effect. This missense mutation at codon 169 (Tyr to His) would probably cause an alteration in the structure of the putative VHL protein. The association of this distinct mutation with the pheochromocytoma phenotype in VHL may help to elucidate the genetic mechanism of carcinogenesis in this multi tumor cancer syndrome. |
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