Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.G42R
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TERT

NM_198253.3:p.G42R

Associated Papers

The immortality mechanism of TERT promoter mutant cancers is self-reinforcing and reversible.

Stevers NO et al.

Molecular Cell, 2025

Malignant Transformation of Meningioma With TERT Promoter Mutation: A Case Report.

Hong Y et al.

Brain Tumor Research and Treatment, 2024

Base editing of the mutated TERT promoter inhibits liver tumor growth.

Zhao G et al.

Hepatology (baltimore, Md.), 2024

Working title: Molecular involvement of p53-MDM2 interactome in gastrointestinal cancers.

Yedla P et al.

Cell Biochemistry and Function, 2024

Clinical, histological, and molecular differences in melanoma due to different TERT promoter mutations subtypes. A retrospective cross-sectional study in 684 melanoma patients.

Manrique-Silva E et al.

Pigment Cell & Melanoma Research, 2024

TERTmonitor-qPCR Detection of TERTp Mutations in Glioma.

Brás JP et al.

Genes, 2023

Emerging mechanisms of telomerase reactivation in cancer.

Sharma S et al.

Trends in Cancer, 2022

Characterization of somatic mutations and pathway alterations during hepatocellular carcinoma vascular invasion using next-generation sequencing.

Li Q et al.

Journal of Gastrointestinal Oncology, 2022

36092348 (PubMed )
Supplement: jgo-13-04-1864-supplementary.pdf

The genomic and transcriptional landscape of primary central nervous system lymphoma.

Radke J et al.

Nature Communications, 2022

Occurrence, functionality and abundance of the TERT promoter mutations.

Rachakonda S et al.

International Journal of Cancer, 2021

Clinical Significance of Telomerase Reverse-Transcriptase Promoter Mutations in Hepatocellular Carcinoma.

Pezzuto F et al.

Cancers, 2021

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features.

Castanheira A et al.

Scientific Reports, 2021

Genetic Determinants for Prediction of Outcome of Patients with Papillary Thyroid Carcinoma.

Póvoa AA et al.

Cancers, 2021

33922635 (PubMed )
Supplement: cancers-13-02048-s001.zip › Povoa_AA_-Supplementary_Table_S2.pdf

Extensive heterogeneity in somatic mutation and selection in the human bladder.

Lawson ARJ et al.

Science (new York, N.y.), 2020

Clinical significance of combined circulating TERT promoter mutations and miR-122 expression for screening HBV-related hepatocellular carcinoma.

Trung NT et al.

Scientific Reports, 2020

Downregulation of SFRP1 is a protumorigenic event in hepatoblastoma and correlates with beta-catenin mutations.

Regel I et al.

Journal of Cancer Research and Clinical Oncology, 2020

32189106 (PubMed )
Supplement: 432_2020_3182_MOESM1_ESM.xlsx › Tabelle1

Pure Large Nested Variant of Urothelial Carcinoma (LNUC) Is the Prototype of an FGFR3 Mutated Aggressive Urothelial Carcinoma with Luminal-Papillary Phenotype.

Weyerer V et al.

Cancers, 2020

Programmable base editing of mutated TERT promoter inhibits brain tumour growth.

Li X et al.

Nature Cell Biology, 2020

Frequency of somatic mutations in TERT promoter, TP53 and CTNNB1 genes in patients with hepatocellular carcinoma from Southern Italy.

Lombardo D et al.

Oncology Letters, 2020

TERT Promoter Mutation as a Potential Predictive Biomarker in BCG-Treated Bladder Cancer Patients.

Batista R et al.

International Journal of Molecular Sciences, 2020

32023888 (PubMed )
Supplement: ijms-21-00947-s001.pdf

Molecular genetics of meningiomas.

Youngblood MW et al.

Handbook of Clinical Neurology, 2020

Discovering human transcription factor physical interactions with genetic variants, novel DNA motifs, and repetitive elements using enhanced yeast one-hybrid assays.

Shrestha S et al.

Genome Research, 2019

Deep sequencing of a recurrent oligodendroglioma and the derived xenografts reveals new insights into the evolution of human oligodendroglioma and candidate driver genes.

Exner ND et al.

Oncotarget, 2019

TERT promoter mutations in melanoma survival.

Nagore E et al.

Oncotarget, 2019

Distinct profiles of TERT promoter mutations and telomerase expression in head and neck cancer and cervical carcinoma.

Annunziata C et al.

International Journal of Cancer, 2018

mTOR Pathway in Papillary Thyroid Carcinoma: Different Contributions of mTORC1 and mTORC2 Complexes for Tumor Behavior and SLC5A5 mRNA Expression.

Tavares C et al.

International Journal of Molecular Sciences, 2018

Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia.

Starita N et al.

Journal of Translational Medicine, 2018

Combined activation of MAP kinase pathway and β-catenin signaling cause deep penetrating nevi.

Yeh I et al.

Nature Communications, 2017

28935960 (PubMed )
Supplement: 41467_2017_758_MOESM1_ESM.pdf

Molecular Pathology of Anaplastic Thyroid Carcinomas: A Retrospective Study of 144 Cases.

Bonhomme B et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

TERT promoter mutations: a genetic signature of benign and malignant thyroid tumours occurring in the context of tinea capitis irradiation.

Boaventura P et al.

European Journal of Endocrinology, 2017

Frequency and geographic distribution of TERT promoter mutations in primary hepatocellular carcinoma.

Pezzuto F et al.

Infectious Agents and Cancer, 2017

A Pharmacological Chaperone Molecule Induces Cancer Cell Death by Restoring Tertiary DNA Structures in Mutant hTERT Promoters.

Kang HJ et al.

Journal of the American Chemical Society, 2016

27643954 (PubMed )
Supplement: ja6b07598_si_002.pdf

TERT Promoter Mutations and Tumor Persistence/Recurrence in Papillary Thyroid Cancer.

Myung JK et al.

Cancer Research and Treatment, 2016

Noninvasive detection of tumor-associated mutations from circulating cell-free DNA in hepatocellular carcinoma patients by targeted deep sequencing.

Liao W et al.

Oncotarget, 2016

Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers.

Landa I et al.

The Journal of Clinical Investigation, 2016

Preoperative Assessment of TERT Promoter Mutation on Thyroid Core Needle Biopsies Supports Diagnosis of Malignancy and Addresses Surgical Strategy.

Crescenzi A et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2016

Germline TERT promoter mutations are rare in familial melanoma.

Harland M et al.

Familial Cancer, 2016

The molecular landscape of extraskeletal osteosarcoma: A clinicopathological and molecular biomarker study.

Jour G et al.

The Journal of Pathology. Clinical Research, 2016

27499911 (PubMed )
Supplement: CJP2-2-09-s001.xlsx › Sheet1

TERT Core Promotor Mutations in Early-Onset Bladder Cancer.

Giedl J et al.

Journal of Cancer, 2016

Molecular Markers Involved in Tumorigenesis of Thyroid Carcinoma: Focus on Aggressive Histotypes.

Penna GC et al.

Cytogenetic and Genome Research, 2016

Telomerase reverse transcriptase promoter mutation is an early somatic genetic alteration in the transformation of premalignant nodules in hepatocellular carcinoma on cirrhosis.

Nault JC et al.

Hepatology (baltimore, Md.), 2014

TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas.

Melo M et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

High incidence of activating TERT promoter mutations in meningiomas undergoing malignant progression.

Goutagny S et al.

Brain Pathology (zurich, Switzerland), 2014

Telomerase reverse transcriptase gene promoter mutations help discern the origin of urogenital tumors: a genomic and molecular study.

Wu S et al.

European Urology, 2014

Frequency of TERT promoter mutations in human cancers.

Vinagre J et al.

Nature Communications, 2013

High frequency of telomerase reverse-transcriptase promoter somatic mutations in hepatocellular carcinoma and preneoplastic lesions.

Nault JC et al.

Nature Communications, 2013

Integrating Molecular Testing in the Diagnosis and Management of Children with Thyroid Lesions.

Ballester LY et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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