Somatic Mutations in Neurofibromatosis Type 1 Gene in Human Tumors

Neurofibromatosis is a genetic disorder of the nervous system that primarily affects the development and growth of nerve cell tissues. This disorder causes tumors to grow on nerves at any time and location, and can produce abnormalities such as skin changes and bone deformities. The disorder is associated with a significant morbidity and mortality. The current invention is directed to: (a) somatic mutations of the Neurofibromatosis type-1 (NF1) gene which alter ras regulation. (b) methods of screening humans to determine those having somatic mutations in the NF1 gene in tumors, and (c) method of treating people having a tumor with a somatic mutation in the NF1 gene by restoring natural regulation of ras proteins.

*The finding of somatic mutations in the NF1 gene has wide applications for the diagnosis and treatment of tumors.
*Somatic mutations in the NF1 gene can be used for determining a prognosis of an individual tumor, which in turn can be used to develop a course of treatment for the specific tumor, subsequently permiting ras oncogene activity to be the treatment focus, by utilizing strategies based on catalytic or non-catalytic antagonism of ras gene function.
*Somatic mutations in the NF1 gene can be used as a method for determining defective ras oncogene regulation.
*Useful diagnostic tools for detecting mutations include fluorescent in-situ hybridization, direct DNA sequencing, PFGE sequencing, southern blot analysis, RNase protection assay, dot-blot analysis, single stranded conformation polymorphism analysis (SSCP), and PCR based SSCP analysis.

Stage of Development
A United States patent (# 5,605,799) has been issued by the US PTO on 2/25/1997 and expires on 2/25/2017.

Additional Info
*Cawthon RM et al., (1990). A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell, Vol 62, 193-201.
*Viskochil D et al., (1990) Deletions and translocations interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-192.

Inventor(s): Peter O'Connell, Richard Cawthon, Raymond White, David Viskochil, Ying Li

Type of Offer: Licensing

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