LAUSR: promoter mutations

TERT promoter mutations identify a high-risk group in metastasis-free advanced thyroid carcinoma.

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0 Published in 2019 at "European journal of cancer"

DOI: 10.1016/j.ejca.2018.12.003

Abstract: BACKGROUND TERT promoter mutations are associated with adverse clinicopathological characteristics in thyroid carcinomas and considered as a major indicator of poor outcomes. Nevertheless, most studies have pooled heterogeneous types of thyroid carcinomas and have been conducted… read more here.

Keywords: promoter mutations; high risk; tert promoter; promoter ... See more keywords

Telomerase reverse transcriptase (TERT) promoter mutations in primary adenocarcinoma of bladder and urothelial carcinoma with glandular differentiation: pathogenesis and diagnostic implications

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0 Published in 2021 at "Modern Pathology"

DOI: 10.1038/s41379-021-00776-z

Abstract: Telomerase reverse transcriptase (TERT) promoter mutations have been implicated in urothelial carcinogenesis and are present in 60–80% of conventional and variants of urothelial carcinomas. We investigated the prevalence of TERT promoter mutations in 46 cases… read more here.

Keywords: promoter mutations; tert promoter; glandular differentiation; urothelial carcinoma ... See more keywords

Implementation of TERT promoter mutations improve prognostication of the WHO classification in meningioma

Testicular seminoma with large direct iliac nodal metastasis: unusual presentation

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0 Published in 2020 at "BMJ Case Reports"

DOI: 10.1136/bcr-2020-236702

Abstract: In this review, we summarise the function and structure of telomerase reverse transcriptase (TERT) in humans, including its regulation. The dysregulation of telomerase through TERT promoter mutations across a range of cancers is discussed. The… read more here.

Keywords: seminoma large; promoter mutations; large direct; tert promoter ... See more keywords

Telomerase promoter mutations and copy number alterations in solitary fibrous tumours

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0 Published in 2018 at "Journal of Clinical Pathology"

DOI: 10.1136/jclinpath-2018-205132

Abstract: Aims Solitary fibrous tumour (SFT) is an infrequently metastasising mesenchymal tumour defined by the NAB2–STAT6 fusion gene. Activating mutations in the telomerase reverse transcriptase (hTERT) gene promoter has been reported to associate with adverse patient… read more here.

Keywords: copy number; solitary fibrous; promoter mutations; promoter ... See more keywords

TERT Promoter Mutations and Telomerase in Melanoma

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1 Published in 2022 at "Journal of Oncology"

DOI: 10.1155/2022/6300329

Abstract: Malignant melanoma is an extremely malignant tumor with a high mortality rate and an increasing incidence with a high mutation load. The frequency of mutations in the TERT promoter exceeds the frequency of any known… read more here.

Keywords: promoter; melanoma; tert promoter; promoter mutations ... See more keywords

TERT Promoter Mutations Promote Immortalization and Genomic Instability.

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1 Published in 2017 at "Cancer discovery"

DOI: 10.1158/2159-8290.cd-rw2017-161

Abstract: TERT promoter mutations may induce early and late tumorigenesis by separate mechanisms. read more here.

Keywords: promote immortalization; mutations promote; promoter mutations; tert promoter ... See more keywords

Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations

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0 Published in 2017 at "Journal of Clinical Investigation"

DOI: 10.1172/jci91161

Abstract: Germline coding mutations in different telomere-related genes have been linked to autosomal-dominant familial pulmonary fibrosis. Individuals with these inherited mutations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, blood, liver, skin, and other organs.… read more here.

Keywords: mutations telomerase; function mutations; promoter mutations; loss function ... See more keywords

Optimizing Amplification of the GC-Rich TERT Promoter Region Using 7-Deaza-dGTP for Droplet Digital PCR Quantification of TERT Promoter Mutations.

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1 Published in 2018 at "Clinical chemistry"

DOI: 10.1373/clinchem.2017.284257

Abstract: To the Editor: Droplet digital PCR (ddPCR) assays partition PCR reactions into multiple compartments. PCR amplification followed by analysis of end point fluorescence of each partition allows the absolute quantification of the target sequence. ddPCR… read more here.

Keywords: promoter mutations; tert promoter; deaza dgtp; pcr ... See more keywords

Detection of TERT Promoter Mutations as a Prognostic Biomarker in Gliomas: Methodology, Prospects, and Advances

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1 Published in 2022 at "Biomedicines"

DOI: 10.3390/biomedicines10030728

Abstract: This article reviews the existing approaches to determining the TERT promoter mutational status in patients with various tumoral diseases of the central nervous system. The operational characteristics of the most common methods and their transferability… read more here.

Keywords: detection tert; methodology; tert promoter; gliomas ... See more keywords

Deciphering the Functions of Telomerase Reverse Transcriptase in Head and Neck Cancer

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3 Published in 2023 at "Biomedicines"

DOI: 10.3390/biomedicines11030691

Abstract: Head and neck cancers (HNCs) are among the ten leading malignancies worldwide. Despite significant progress in all therapeutic modalities, predictive biomarkers, and targeted therapies for HNCs are limited and the survival rate is unsatisfactory. The… read more here.

Keywords: promoter; reverse transcriptase; head neck; telomerase reverse ... See more keywords

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