Articles with "promoter mutation" as a keyword



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Is it a new culprit? “TERT promoter mutation” in an aggressive pediatric pilocytic astrocytoma

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Published in 2020 at "Child's Nervous System"

DOI: 10.1007/s00381-020-04803-3

Abstract: Recent advances in the genomic study have revolutionized the discovery of molecular biomarkers in glioma not only to aid in targeted therapy but also to prognosticate character of tumor and outcome of a patient. The… read more here.

Keywords: tert promoter; astrocytoma; pilocytic astrocytoma; promoter mutation ... See more keywords
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Diagnostic implications of TERT promoter mutation status in diffuse gliomas in a routine clinical setting

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Published in 2017 at "Virchows Archiv"

DOI: 10.1007/s00428-017-2216-x

Abstract: IDH (isocitrate dehydrogenase) gene mutations are present in most diffuse low-grade gliomas and define the clinico-pathological core of the respective morphologically defined entities. Conversely, according to the 2016 WHO classification, the majority of glioblastomas belong… read more here.

Keywords: promoter mutation; tert promoter; diffuse gliomas; idh wildtype ... See more keywords
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CSIG-24. GABP LINKS AMPK SIGNALING TO TERT REGULATION IN A TERT PROMOTER MUTATION DEPENDENT MANNER

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Published in 2019 at "Neuro-Oncology"

DOI: 10.1093/neuonc/noz175.194

Abstract: Over 90% of human tumors achieve immortality by reactivating telomerase reverse transcriptase (TERT), the catalytic subunit of telomerase. Two mutually exclusive, heterozygous mutations that activate the TERT promoter (TERTp) occur in a wide range of… read more here.

Keywords: tert; promoter mutation; tert promoter; mutation dependent ... See more keywords
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MP01-11 TERT PROMOTER MUTATION IN NON-MALIGNANT UROTHELIUM OF BLADDER IS ASSOCIATED WITH RECURRENCE IN PATIENTS WITH NON-MUSCLE INVASIVE BLADDER CARCINOMA

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Published in 2020 at "Journal of Urology"

DOI: 10.1097/ju.0000000000000815.011

Abstract: INTRODUCTION AND OBJECTIVE:TERT promoter mutation (TPM) is frequently found in urothelial carcinoma (UC). TPM is also detected in urine from patients with no evidence of cancer, and is associated w... read more here.

Keywords: bladder; tert promoter; promoter mutation;
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Risk Factors for TERT Promoter Mutations with Papillary Thyroid Carcinoma Patients: A Meta-Analysis and Systematic Review

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Published in 2022 at "Computational and Mathematical Methods in Medicine"

DOI: 10.1155/2022/1721526

Abstract: Whether TERT promoter mutation is related to more aggressive clinicopathologic features and worse outcomes in papillary thyroid carcinoma patients (PTCs) is still variable and controversial. Our intention was to investigate the risk or prognostic factors… read more here.

Keywords: promoter; thyroid carcinoma; tert promoter; promoter mutation ... See more keywords
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Promoter Mutation Analysis of LEPROTL1 Gene in Acute Leukemias and Solid Tumors

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Published in 2019 at "Acta Haematologica"

DOI: 10.1159/000494424

Abstract: the hotspots identified in the earlier study [3]. The ALL patient (a 6-year-old girl) with the LEPROTL1 mutation was diagnosed as having B lymphoblastic leukemia with t(12; 21)(p13;q22);TEL-AML1 (ETV6RUNX1). Cytogenetic analysis of the bone marrow… read more here.

Keywords: leprotl1 gene; promoter mutation; study; gene ... See more keywords
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TERT promoter mutation confers favorable prognosis regardless of 1p/19q status in adult diffuse gliomas with IDH1/2 mutations

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Published in 2020 at "Acta Neuropathologica Communications"

DOI: 10.1186/s40478-020-01078-2

Abstract: TERT promoter mutations are commonly associated with 1p/19q codeletion in IDH-mutated gliomas. However, whether these mutations have an impact on patient survival independent of 1p/19q codeletion is unknown. In this study, we investigated the impact… read more here.

Keywords: 19q codeletion; promoter mutation; tert promoter; promoter ... See more keywords
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Relationship between IDH1/2 and TERT promoter mutation and the prognosis of human glioma patients

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Published in 2023 at "Pakistan Journal of Medical Sciences"

DOI: 10.12669/pjms.39.3.7149

Abstract: Objective: To investigate the relationship between isocitrate dehydrogenase (IDH) 1/2 mutation, telomerase reverse transcriptase (TERT) gene promoter mutation and the prognosis of human glioma patients. Methods: One hundred fifteen patients with human glioma, treated surgically… read more here.

Keywords: promoter; human glioma; tert promoter; promoter mutation ... See more keywords
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Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers

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Published in 2018 at "PLoS Genetics"

DOI: 10.1371/journal.pgen.1007849

Abstract: Sequencing of whole cancer genomes has revealed an abundance of recurrent mutations in gene-regulatory promoter regions, in particular in melanoma where strong mutation hotspots are observed adjacent to ETS-family transcription factor (TF) binding sites. While… read more here.

Keywords: mutation hotspots; elevated pyrimidine; promoter mutation; formation ... See more keywords
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TERT Promoter Mutation C228T Increases Risk for Tumor Recurrence and Death in Head and Neck Cancer Patients

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Published in 2020 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2020.01275

Abstract: Background: Head and neck squamous cell carcinoma (HNSCC) is usually associated to tobacco and alcohol consumption. Increased telomerase activity has been consistently detected in 80–90% of malignant tumors, including HNSCC. Mutations within the promoter region… read more here.

Keywords: promoter mutation; tert promoter; promoter; c228t ... See more keywords