Molecular genetic analyses in neurofibromatosis type 1 patients with tumors

Cancer Genetics and Cytogenetics
Sibel OguzkanSukriye Ayter

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The NF1 gene product, neurofibromin, has a GTPase-activating protein domain (GRD) that interacts with the Ras protein, which is crucial in regulating signal transduction and cell proliferation/differentiation. We performed mutation analyses in the NF1-GRD region (exons 21-27a) and in exons 4b, 16, 29, and 37, and intron 28 in 17 NF1 patients with tumors. We identified a large deletion in the NF1 gene in a patient with a rhabdomyosarcoma as well as a variation in intron 22 in a patient with an optic glioma. We also found a 4-base pair deletion in another patient with optic glioma. In addition, allelic loss of the NF1 locus was shown in a pilocytic astrocytoma. Functional analyses of mutations in the NF1 gene may provide further insights into the pathogenesis of NF1 tumors.

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Citations

Dec 14, 2011·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Yunus Kasim TerziSukriye Ayter
Jan 20, 2007·Omics : a Journal of Integrative Biology·Madhumita ChatterjeeMichael A Tainsky
Oct 24, 2012·Neuro-oncology·Nicholas F Marko, Robert J Weil
Feb 13, 2013·Italian Journal of Pediatrics·Pasquale ParisiMaria Pia Villa
Jul 7, 2009·Journal of Neurosurgery·Matthew L CarlsonMichael J Link
Jun 30, 2015·Expert Review of Anticancer Therapy·Agusti AlentornSantosh Kesari
May 27, 2008·Current Problems in Cancer·Andreana L RiveraKen Aldape

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