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Int J Cancer. 2016 Jul 15;139(2):414-23. doi: 10.1002/ijc.30057. Epub 2016 Mar 24.

The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism.

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Cancer Signaling and Metabolism Group, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal.
Cancer Signaling and Metabolism Group, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Portugal.
Molecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil.
Institute of Biomedical Sciences of Abel Salazar, University of Porto, Portugal.
Ribeirão Preto School of Medicine, University of São Paulo, Brazil.
Department of Pathology, Barretos Cancer Hospital, São Paulo, Brazil.
Department of Neurosurgery, Barretos Cancer Hospital, São Paulo, Brazil.
Life and Health Sciences Research Institute (ICVS), Health Sciences School, University of Minho, Braga, Portugal.
ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Department of Pathology, Hospital Pedro Hispano, Matosinhos, Portugal.
Department of Pathology, Centro Hospitalar de S. João, Porto, Portugal.
Department of Neurosurgery, Centro Hospitalar de S. João, Porto, Portugal.
Medical Faculty of the University of Porto, Portugal.
Neurosciences Department, CUF Hospital, Porto, Portugal.


Human hotspot TERT promoter (TERTp) mutations have been reported in a wide range of tumours. Several studies have shown that TERTp mutations are associated with clinicopathological features; in some instances, TERTp mutations were considered as biomarkers of poor prognosis. The rs2853669 SNP, located in the TERT promoter region, was reported to modulate the increased TERT expression levels induced by the recurrent somatic mutations. In this study we aimed to determine the frequency and prognostic value of TERTp mutations and TERT rs2853669 SNP in 504 gliomas from Portuguese and Brazilian patients. TERTp mutations were detected in 47.8% of gliomas (216/452). Glioblastomas (GBM) exhibited the highest frequency of TERTp mutations (66.9%); in this glioma subtype, we found a significant association between TERTp mutations and poor prognosis, regardless of the population. Moreover, in a multivariate analysis, TERTp mutations were the only independent prognostic factor. Our data also showed that the poor prognosis conferred by TERTp mutations was restricted to GBM patients carrying the rs2853669 A allele and not in those carrying the G allele. In conclusion, the presence of TERTp mutations was associated with worse prognosis in GBM patients, although such association depended on the status of the rs2853669 SNP. The status of the rs2853669 SNP should be taken in consideration when assessing the prognostic value of TERTp mutations in GBM patients. TERTp mutations and the rs2853669 SNP can be used in the future as biomarkers of glioma prognosis.


TERT SNP; TERT promoter mutations; glioblastoma; prognosis; survival

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