title: Fundamental mechanisms of tumorigenesis in the human nervous system: isolation and characterization of genes associated with hereditary forms of cancer.
abstract: Many human cancers are known to occur in two different forms: as sporadic tumors in the general population and as hereditary tumors within families. Hereditary cancer syndromes offer unique model systems for isolating genes whose mutations lead to cancer. Here I briefly outline "reverse genetics" strategies for the isolation of the defective genes associated with three hereditary tumor syndromes of the human nervous system: neurofibromatosis type 1 (von Recklinghausen's disease) and type 2, and von Hippel-Lindau disease. The cloning and characterization of these genes will have important implications for diagnosis and treatment, not only for the relatively rare hereditary tumors, but also for their much more common sporadic counterparts such as the majority of sporadic brain tumors and renal-cell carcinomas.
authors.affiliation: Department of Neurosurgery, Massachusetts General Hospital, Boston.
authors.forename: B R
authors.initials: BR
authors.lastname: Seizinger
mesh_terms: D000798:Angiomatosis / Q000235:genetics*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D003001:Cloning, Molecular; D006801:Humans; D009423:Nervous System Neoplasms / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014178:Translocation, Genetic; D006623:von Hippel-Lindau Disease / Q000235:genetics*