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TERT promoter mutat...
TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma
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- Mosrati, Mohamed Ali (author)
- Linköpings universitet,Institutionen för klinisk och experimentell medicin,Medicinska fakulteten
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- Malmström, Annika (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, LAH Linköping
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- Lysiak, Malgorzata (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten
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- Krysztofiak, Adam (author)
- Linköpings universitet,Institutionen för klinisk och experimentell medicin,Medicinska fakulteten
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- Hallbeck, Martin (author)
- Linköpings universitet,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik
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- Milos, Peter (author)
- Linköpings universitet,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Neurokirurgiska kliniken US
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- Hallbeck, Anna-Lotta (author)
- Linköpings universitet,Avdelningen för kliniska vetenskaper,Medicinska fakulteten,Region Östergötland, Onkologiska kliniken US
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- Bratthall, Charlotte (author)
- Dist Hospital, Sweden
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- Strandeus, Michael (author)
- Ryhov Hospital, Sweden
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- Stenmark Askmalm, Marie (author)
- Linköpings universitet,Avdelningen för kliniska vetenskaper,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik
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- Söderkvist, Peter (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik
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(creator_code:org_t)
- 2015-06-22
- 2015
- English.
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In: Oncotarget. - : IMPACT JOURNALS LLC. - 1949-2553. ; 6:18, s. 16663-16673
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https://liu.diva-por... (primary) (Raw object)
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http://www.oncotarge...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Telomerase reverse transcriptase (TERT) activity is up-regulated in several types of tumors including glioblastoma (GBM). In the present study, 128 primary glioblastoma patients were examined for single nucleotide polymorphisms of TERT in blood and in 92 cases for TERT promoter mutations in tumors. TERT promoter mutations were observed in 86% of the tumors and of these, C228T (-124 bp upstream start codon) was detected in 75% and C250T (-146 bp) in 25% of cases. TERT promoter mutations were associated with shorter overall survival (11 vs. 20 months p = 0.002 and 12 vs. 20, p = 0.04 for C228T and C250T, respectively). The minor alleles of rs2736100 and rs10069690 SNPs, located in intron 2 and the promotor regions, respectively, were associated with an increased risk of developing GBM (p = 0.004 and 0.001). GBM patients having both TERT promoter mutations and being homozygous carriers of the rs2853669 C-allele displayed significantly shorter overall survival than those with the wild type allele. The rs2853669 SNP is located in a putative Ets2 binding site in the promoter (-246 bp upstream start codon) close to the C228T and C250T mutation hot spots. Interleukin-6 (IL-6) expression regulated by TERT promoter status and polymorphism, what leads us to think that TERT and IL-6 plays a significant role in GBM, where specific SNPs increase the risk of developing GBM while the rs2853669 SNP and specific mutations in the TERT promoter of the tumor lead to shorter survival.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- TERT polymorphism; TERT promoter mutations; IDH1 mutation; glioblastoma; IL-6
Publication and Content Type
- ref (subject category)
- art (subject category)
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Oncotarget
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- By the author/editor
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Mosrati, Mohamed ...
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Malmström, Annik ...
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Lysiak, Malgorza ...
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Krysztofiak, Ada ...
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Hallbeck, Martin
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Milos, Peter
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Hallbeck, Anna-L ...
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Bratthall, Charl ...
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Strandeus, Micha ...
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Stenmark Askmalm ...
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Söderkvist, Pete ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Oncotarget
- By the university
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Linköping University