## Communicated by Riccardo Fodde About 10% of neurofibromatosis type 1 (NF1) patients develop malignant peripheral nerve sheath tumors (MPNSTs) and represent considerable patient morbidity and mortality. Elucidation of the genetic mechanisms by which inherited and acquired NF1 disease gene variant
Malignancies Associated With Germline And Somatic NF1 Gene Mutations
β Scribed by S. Patil; R. Chamberlain
- Book ID
- 116707341
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 56 KB
- Volume
- 165
- Category
- Article
- ISSN
- 0022-4804
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We have analyzed 98.5% of the coding region of the NF1 gene at the cDNA level in seven NF1 patients who developed malignant peripheral nerve sheath tumors. Seven germline mutations were detected in six individuals: a 6-bp in-frame deletion in exon 28, a splice acceptor mutation in intron 31 resultin
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 ab