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https://hdl.handle.net/11499/4653
Title: | Molecular genetic analyses in neurofibromatosis type 1 patients with tumors | Authors: | Oguzkan, S. Terzi, Y.K. Cinbis, M. Anlar, B. Aysun, S. Ayter, S. |
Keywords: | gene product guanosine triphosphatase activating protein neurofibromin Ras protein adolescent adult allele article astrocytoma autosomal dominant disorder cancer risk cell differentiation cell proliferation child clinical article exon female functional assessment gene deletion gene function gene locus gene mutation genetic analysis genetic variability human intron male malignant neoplastic disease molecular genetics mutational analysis neurofibroma neurofibromatosis optic nerve glioma pathogenesis pigment disorder priority journal protein domain protein protein interaction rhabdomyosarcoma risk factor signal transduction Adolescent Child Child, Preschool Exons Female Humans Introns Loss of Heterozygosity Male Middle Aged Mutation Neurofibromatosis 1 Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational |
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. © 2006 Elsevier Inc. All rights reserved. | URI: | https://hdl.handle.net/11499/4653 https://doi.org/10.1016/j.cancergencyto.2005.08.029 |
ISSN: | 0165-4608 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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