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The Neurofibromatosis type 1:A dominantly inherited tumors-predisposing disorder

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Scalzone M., Coccia P., Ruggiero A., Lazzareschi I., Mastrangelo S., Riccardi R.
Open Medicine
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2009
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vol. 4
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issue 1
11-16
EN
Neurofibromatosis type I (NF1) is a hereditary multisystem disease involving the skin and nervous system. It is the most common form of autosomal dominant phakomatoses with 100% penetrance but wide phenotypic variability. The NF1 gene is located on chromosome 17q11.2 and encodes for a tumour suppressor protein. Because affected individuals have an increased risk of tumor formation, this disorder is classified as inherited cancer syndrome. The risk of malignancies in NF1 affected patients is estimated to be 5–15% higher than in the general population. We reviewed clinical aspects and genetic mechanisms of tumorigenesis in NF1 affected patients.
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