Please use this identifier to cite or link to this item: 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

Show full item record



CORE Recommender

SCOPUSTM   
Citations

13
checked on Oct 13, 2024

WEB OF SCIENCETM
Citations

12
checked on Oct 31, 2024

Page view(s)

30
checked on Aug 24, 2024

Google ScholarTM

Check




Altmetric


Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.