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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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. i 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, br. 6, 2019, str. 563-572. https://doi.org/10.3892/mco.2019.1936

Bukovac, Anja, Anja Kafka, Reno Hrašćan, Tomislav Vladušić i 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, br. 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), str. 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]. 15.10.2019. [pristupljeno 28.11.2024.];11(6):563-572. doi: 10.3892/mco.2019.1936

A. Bukovac, A. Kafka, R. Hrašćan, T. Vladušić i 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, br. 6, str. 563-572, Listopad 2019. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:486486. [Citirano: 28.11.2024.]

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Naslov (engleski)Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance
AutorAnja Bukovac
AutorAnja Kafka
AutorReno Hrašćan
AutorTomislav Vladušić
AutorNives Pećina‑Šlaus
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(HRVATSKI INSTITUT ZA ISTRAŽIVANJE MOZGA)
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA MEDICINSKU BIOLOGIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Citologija, histologija i embriologija
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Neurologija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaMolecular and Clinical Oncology
Brojčani podacivol. 11, br. 6, str. 563-572
p-ISSN2049-9450
e-ISSN2049-9469
DOIhttps://doi.org/10.3892/mco.2019.1936
URN:NBNurn:nbn:hr:105:486486
Datum objave publikacije2019-10-15
URL dokumentahttp://www.spandidos-publications.com/10.3892/mco.2019.1936
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Bez prerada 4.0 međunarodna (CC BY-NC-ND 4.0)
Datum i vrijeme pohrane2020-12-09 08:56:19