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Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Human mutation - 1 Aug 2008

Upadhyaya Meena, Spurlock Gill, Monem Bisma, Thomas Nick, Friedrich Reinhard E, Kluwe Lan, Mautner Victor

Abstract excerpt

Neurofibromatosis type 1 (NF1), a common autosomal dominant neurogenetic disorder affecting 1 in 4000 individuals worldwide, results from functional inactivation of the 17q11.2-located NF1 gene. Plexiform neurofibroma (PNF) is a congenital benign tumour present in 30-50% of NF1 patients, which in about 10-15% of cases, can develop into a malignant peripheral nerve sheath tumour (MPNST). This study aimed to...

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PMID: 18484666
DOI: 10.1002/humu.20793

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