prikaz prve stranice dokumenta Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance
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Scientific paper - Original scientific paper
Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance
Molecular and Clinical Oncology, 11 (2019), 6; 563-572. https://doi.org/10.3892/mco.2019.1936
Bukovac, Anja; Kafka, Anja; Hrašćan, Reno; Vladušić, Tomislav; Pećina‑Šlaus, Nives

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Bukovac, A., Kafka, A., Hrašćan, R., Vladušić, T. & Pećina‑Šlaus, N. (2019). Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance. Molecular and Clinical Oncology, 11. (6), 563-572. doi: 10.3892/mco.2019.1936

Bukovac, Anja, et al. "Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance." Molecular and Clinical Oncology, vol. 11, no. 6, 2019, pp. 563-572. https://doi.org/10.3892/mco.2019.1936

Bukovac, Anja, Anja Kafka, Reno Hrašćan, Tomislav Vladušić and Nives Pećina‑Šlaus. "Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance." Molecular and Clinical Oncology 11, no. 6 (2019): 563-572. https://doi.org/10.3892/mco.2019.1936

Bukovac, A., et al. (2019) 'Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance', Molecular and Clinical Oncology, 11(6), pp. 563-572. doi: 10.3892/mco.2019.1936

Bukovac A, Kafka A, Hrašćan R, Vladušić T, Pećina‑Šlaus N. Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance. Molecular and Clinical Oncology [Internet]. 2019 October 15 [cited 2024 November 28];11(6):563-572. doi: 10.3892/mco.2019.1936

A. Bukovac, A. Kafka, R. Hrašćan, T. Vladušić and N. Pećina‑Šlaus, "Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance", Molecular and Clinical Oncology, vol. 11, no. 6, pp. 563-572, October 2019. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:486486. [Accessed: 28 November 2024]

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Metadata
Title (english)Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance
AuthorAnja Bukovac
AuthorAnja Kafka
AuthorReno Hrašćan
AuthorTomislav Vladušić
AuthorNives Pećina‑Šlaus
Author's institutionUniversity of Zagreb
School of Medicine
(Croatian Institiute for Brain Research)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Medical Biology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Cytology, Histology and Embryology
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract (english)
The aim of the present study was to identify TP53 exon 4 mutations in patients with meningioma and to investigate their potential association with specific tumor pathology. Nucleotide alterations were investigated in 48 meningiomas via the direct sequencing of TP53 exon 4 in patient tumor and blood samples using the DNA Sanger method with the BigDyeTerminator v3.1 Cycle Sequencing kit and Applied Biosystems 3730XL apparatus. The results revealed that TP53 exon 4 was frequently altered in meningioma, occurring in 60.4% of the patients investigated. A total of 18 different alterations were detected in the meningioma samples assessed in the current study. The majority of these appeared more than once and some were repeatedly identified in several patients. Changes at codons 72 (c.215G>C) and 62 (c.186delA) were highly prevalent, occurring in 44.8% of patients. Other changes detected via frequency analysis included: Five substitutions on codon 105 (c.315C>T); four insertions on codon 70 (c.209_210insG); three insertions on codon 64 (c.190C>G), 82 (245C>T; 245delC; 243_244insA) and 104 (c.312G>A); and two insertions on codons 108 (c.322G>C), 71 (c.213C>A), 73 (c.217G>A), 91 (c.271T>C) and 100 (c.300G>T). Codons 68 (c.202_203insT), 77 (c.229C>T), 88 (c.263C>G) and 92 (c.276C>A) were altered once. Alterations on codons 82, 91, 108, 104, 105, 70 and 92 were characterized as possibly damaging by PolyPhen-2 and Mutation Taster2 tools. The current study also demonstrated that nucleotide alterations were significantly associated with the loss of p53 expression (P=0.04) and female patients (P=0.049), particularly codon 72. The results present novel data on the mutational spectrum of TP53 in meningeal brain tumors.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMolecular and Clinical Oncology
Numberingvol. 11, no. 6, pp. 563-572
p-ISSN2049-9450
e-ISSN2049-9469
DOIhttps://doi.org/10.3892/mco.2019.1936
URN:NBNurn:nbn:hr:105:486486
Publication2019-10-15
Document URLhttp://www.spandidos-publications.com/10.3892/mco.2019.1936
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2020-12-09 08:56:19