liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Region Östergötland, Local Health Care Services in Central Östergötland, Department of Advanced Home Care in Linköping. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Medicine and Health Sciences.
Show others and affiliations
2015 (English)In: OncoTarget, ISSN 1949-2553, E-ISSN 1949-2553, Vol. 6, no 18, 16663-16673 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
IMPACT JOURNALS LLC , 2015. Vol. 6, no 18, 16663-16673 p.
Keyword [en]
TERT polymorphism; TERT promoter mutations; IDH1 mutation; glioblastoma; IL-6
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:liu:diva-120882DOI: 10.18632/oncotarget.4389ISI: 000359012000088PubMedID: 26143636OAI: oai:DiVA.org:liu-120882DiVA: diva2:849384
Note

Funding Agencies|Swedish Cancer foundation; Region Ostergotland research fund; FORSS

Available from: 2015-08-28 Created: 2015-08-28 Last updated: 2017-12-04

Open Access in DiVA

fulltext(2469 kB)243 downloads
File information
File name FULLTEXT01.pdfFile size 2469 kBChecksum SHA-512
0c2a62b6a376d3423de636078da01256461ef4ec5dcfa0c230326fe579bfdf7ccf99ec234d83c8657f1ce52b87ebf7940efc5f357fd8f144d34f79ea74ae852a
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Authority records BETA

Malmström, AnnikaLysiak, MalgorzataHallbeck, MartinMilos, PeterHallbeck, Anna-LottaStenmark Askmalm, MarieSöderkvist, Peter

Search in DiVA

By author/editor
Malmström, AnnikaLysiak, MalgorzataHallbeck, MartinMilos, PeterHallbeck, Anna-LottaStenmark Askmalm, MarieSöderkvist, Peter
By organisation
Department of Clinical and Experimental MedicineFaculty of Medicine and Health SciencesDivision of Cell BiologyDepartment of Advanced Home Care in LinköpingDivision of Neuro and Inflammation ScienceDepartment of Clinical Pathology and Clinical GeneticsDepartment of NeurosurgeryDivision of Clinical SciencesDepartment of Oncology
In the same journal
OncoTarget
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 243 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 304 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf