[Neurofibromatosis type 2 (NF2)--classical example of a rare familial cancer syndrome].
Type 2 neurofibromatosis (NF2) is a dominantly inherited disorder characterized by a predisposition to multiple tumours of the nervous system. The incidence in the Caucasian population is estimated between one in 35,000 and one in 40,000 of live births. The NF2 gene was isolated and shown to have mutations in NF2 patients. It is considered to belong to tumour suppressor gene family. Direct NF2 gene analysis enables verification of tentative clinical diagnosis and makes genetic counselling possible.
Zakład Genetyki IMD, Instytut Matki i Dziecka w Warszawie.
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Wiszniewski
D000328:Adult; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016518:Neurofibromatosis 2 / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D044465:White People