Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients
β Scribed by Wang, Xi; Zhang, Ning; Ning, Xianghui; Li, Teng; Wu, Pengjie; Peng, Shuanghe; Fan, Yu; Bu, Dingfang; Gong, Kan
- Book ID
- 122114056
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 349 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0090-4295
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## Communicated by Lap-Chee Tsui Von Hippel-Lindau (VHL) disease is a dominantly inherited disorder predisposing those afflicted to hemangioblastomas of the central nervous system and the retina, renal cell carcinomas, pheochromocytomas, and pancreatic tumors. The disease has been associated with
Somatic mutations of von Hippel Lindau (VHL) tumorsuppressor gene have been identified in kidney cancers from North America and Japan. We studied VHL gene mutation in 3 I kidney tumors from France. Of these tumors, 45% (14/31) displayed mutations, 60% of which occurred at AT base pairs. The frequenc
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