Clinical and Molecular Consequences of NF1 Microdeletion
Abstract
Skin neurofibromas are the most common tumors of patients with neurofibromatosis type 1 (NF1), yet we know very little about how they develop. We are studying NF1 subjects with microdeletions because they are predisposed to large numbers of neurofibromas. We propose that deletion of NF1 gene and one of the 15 adjacent genes favors the development of skin neurofibromas, and possibly also other tumors. We are currently evaluating NF1 subjects to identify those with deletions and determine when and what kind of tumors and other clinical features they develop. We have developed new competitive PCR assays to rapidly screen for deletion patients. Later in the study we, will look for specific genetic changes in skin neurofibromas of patients with NF1 deletions to provide insight into how they develop. We propose to employ new and powerful technology from the Human Genome Project to confirm or disprove the presence of a tandem NF1-like gene. If present, this gene may contribute in some unknown way to making the disease more or less severe. Therefore, identifying a tumor modelling gene and the possible tandem NF1-like gene will help us understand tumorigenesis in these patients.
Document Details
- Document Type
- Technical Report
- Publication Date
- May 01, 2004
- Accession Number
- ADA425784
Entities
People
- Karen Stephens
Organizations
- University of Washington