Article
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.
Human mutation - 1 Feb 2004
Upadhyaya Meena, Han Song, Consoli Claudia, Majounie Elisa, Horan Martin, Thomas Nick S, Potts Christopher, Griffiths Sian, Ruggieri Martino, von Deimling Andreas, Cooper David N
Abstract excerpt
One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors from 31 NF1 patients were screened for gross changes in the NF1 gene using microsatellite/restriction fragment length polymorphism (RFLP) markers; loss of...
Topics
- Alleles
- Astrocytoma
- Central Nervous System Neoplasms
- DNA Mutational Analysis
- DNA, Neoplasm
- Genes, Neurofibromatosis 1
- Genes, p16
- Genes, p53
- Genome, Human
- Germ-Line Mutation
- Humans
- Loss of Heterozygosity