Please use this identifier to cite or link to this item: http://hdl.handle.net/11452/28763
Title: Impact of novel PTEN mutations in Turkish patients with glioblastoma multiforme
Authors: Uludağ Üniversitesi/Tıp Fakültesi/Biyokimya Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Nöroşirurji Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Patoloji Anabilim Dalı.
0000-0002-3820-424X
0000-0002-1619-6680
0000-0002-7687-3284
0000-0001-7904-883X
Tunca, Berrin
Bekar, Ahmet
Çeçener, Gülşah
Egeli, Ünal
Vatan, Özgür
Tolunay, Şahsine
Kocaeli, Hasan
Aksoy, Kaya
AAP-9988-2020
ABI-6078-2020
O-7508-2015
AAI-1612-2021
AAH-1420-2021
6602965754
6603677218
6508156530
55665145000
16235098100
6602604390
6603500567
6701720577
Keywords: Glioblastoma multiforme
Genetic alterations
Tumor-suppressor
Gliomas
Population
Survival
Region
Domain
Novel mutations
PTEN
Sequencing
SSCP
Turkish population
Issue Date: May-2007
Publisher: Springer
Citation: Tunca, B. vd. (2007). "Impact of novel PTEN mutations in Turkish patients with glioblastoma multiforme". Journal of Neuro-Oncology, 82(3), 263-269.
Abstract: Glioblastoma multiforme (GBM) represents the most common and aggressive type of primary neoplasms of the central nervous system. The PTEN ( phosphatase, tensin homologue, deleted on chromosome TEN; MIM # 601728) tumor suppressor gene has an essential biological role in the formation of glioblastomas. It is known that there are variations in genetic alterations in tumors that develop in patients with different ethnic backgrounds and because there is no study evaluating PTEN mutation in Turkish patients with GBM, we aimed to realize the present study. We investigated 62 GBM tumors for mutations of the PTEN gene using single strand conformational polymorphism ( SSCP) method followed by DNA sequencing. As a result of our investigation, PTEN mutations were detected in 15 of 62 tumors (24.19%). Nine different sequence variants were identified: one novel promoter site mutation ( 5' UTR - 9C -> T), one novel intronic mutation (IVS2-2delA), four novel point mutations (61A -> G, 105T -> G, 248C -> G, and 364C -> G), two novel frameshift mutations (213delC) and 378delGATA) and one previously reported global exonic transition type mutation ( 129G -> A). Since the majority of PTEN mutations identified in the present study are novel, we believe that these alterations may be specific to Turkish population. Furthermore, though no significant correlation was found between PTEN mutations and histopathological properties of GBM tumors, our findings indicate that localizations of mutations in PTEN gene may have an effect on clinical aggressiveness of GBM tumors.
URI: https://doi.org/10.1007/s11060-006-9293-z
https://link.springer.com/article/10.1007%2Fs11060-006-9293-z
http://hdl.handle.net/11452/28763
ISSN: 1573-7373
0167-594X
Appears in Collections:PubMed
Scopus
Web of Science

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