Communicated by David N. Cooper von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays marked variation in expression and the presence of pheochromocytoma has been linked to missense VHL mutat
Associations between VHL genotype and clinical phenotype in familial von Hippel–Lindau disease
✍ Scribed by J. S. Huang; C. J. Huang; S. K. Chen; C. C. Chien; C. W. Chen; C. M. Lin
- Book ID
- 108711547
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 279 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0014-2972
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von Hippel-Lindau (VHL) disease arises from mutations in the VHL gene and predisposes patients to develop a variety of tumors in different organs. In the kidney, single or multiple cysts and renal cell carcinomas (RCC) may occur. Both inter- and intrafamilial heterogeneity in clinical expression are
## Abstract Von Hippel–Lindau (VHL) disease type 2A is an inherited tumor syndrome characterized by predisposition to pheochromocytoma (pheo), retinal hemangioma (RA), and central nervous system hemangioblastoma (HB). Specific VHL subtypes display genotype–phenotype correlations but, unlike other f
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