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  • Title: Genetic causes of brain tumors: neurofibromatosis, tuberous sclerosis, von Hippel-Lindau, and other syndromes.
    Author: Farrell CJ, Plotkin SR.
    Journal: Neurol Clin; 2007 Nov; 25(4):925-46, viii. PubMed ID: 17964021.
    Abstract:
    Several familial syndromes are associated with an increased incidence of nervous system tumors. Recognition of these syndromes is critical to provide optimal clinical care and genetic counseling to affected patients and their families. Identification of the genetic defects responsible for these relatively uncommon disorders has led to the improved understanding of critical molecular pathways involved in tumorigenesis and has contributed to the emergence of molecularly targeted therapeutics against cancer. The hereditary syndromes and diseases included in this review are limited to those associated with brain tumors: neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis complex, von Hippel-Lindau disease, and the less frequently encountered Cowden disease and Li-Fraumeni, Turcot's, and Gorlin's syndromes.
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