Z01 CP004410-08240 (Z01) | |||
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Title | NF2 | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Tucker, Margaret | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $28,759 | Project Dates | 09/26/2002 - N/A |
Fiscal Year | 2008 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (45.0%) Cancer (100.0%) Neurofibromatosis (100.0%) |
Brain (80.0%) Central Nervous System - Not Including Brain (20.0%) |
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Research Type | |||
Endogenous Factors in the Origin and Cause of Cancer Interactions of Genes and/or Genetic Polymorphisms with Exogenous and/or Endogenous Factors |
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Abstract | |||
Neurofibromatosis 2 (NF2) is an autosomal dominant disorder that predisposes to the development of bilateral tumors of the 8th cranial nerve (vestibular schwannomas), schwannomas of other cranial, spinal and peripheral nerves, meningiomas and cataracts. Other tumors such as ependymomas and glioma also occur. The initial goals of the study were to describe the spectrum of clinical features associated with NF2 and to identify the causative gene. Once the gene was identified (in part through study of DNA samples obtained through our research) the primary goal became to determine whether there was a correlation between the clinical features in a patient or a family and the type of NF2 mutation. Numerous studies have demonstrated that the type of NF2 mutation does influence both age of onset of symptoms from NF2 and the numbers and types of tumors that occurred. Currently the primary goal is to examine the natural history of the 60+ patients on whom we have conducted long term follow-up under this protocol. Individuals eligible for the protocol included those with apparently sporadic NF2 as well as NF2 patients from families with multiple affected members. We also evaluated first degree relatives of patients with NF2. Individuals with NF2 and selected blood relatives are brought to the NIH Clinical Center to participate in clinical studies. This includes providing personal and family medical history information, undergoing a physical and neurologic examination, audiology, ophthalmology and Magnetic Resonance imaging of the neuroaxis, and providing a blood sample or cheek cells as a source of DNA. Participants have provided permission to obtain past medical records pertaining to chordoma and other cancers or related illnesses and a piece of tumor stored after any cancer surgery. DNA has been used in a variety of laboratory studies to identify and clone the NF2 gene and determine the spectrum of germline mutations. This study began in 1996. |