Article
VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium.
Oncogene - 30 Aug 2001
Ma X, Yang K, Lindblad P, Egevad L, Hemminki K
Abstract excerpt
Mutations in the von Hippel-Lindau (VHL) gene are frequently detected in human sporadic renal cell carcinoma (RCC). We analysed 102 Swedish RCCs for VHL mutations by PCR-SSCP and sequencing. In 47 patients (46.1%), 70 different mutations were found, and most of them represented novel variations of the VHL gene. Mutations in the VHL gene were found in 54% of clear cell renal cell carcinomas (CCRCC) and in 18% of...
Topics
- Age of Onset
- Aged
- Carcinoma, Renal Cell
- Cell Nucleus
- CpG Islands
- Exons
- Frameshift Mutation
- Gene Deletion
- Humans
- Introns
- Kidney Neoplasms
- Ligases