Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.V84M
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TERT

NM_198253.3:p.V84M

Associated Papers

Histopathological, Immunohistochemical, Molecular and Genetic Biomarkers in Differentiated Thyroid Cancer.

Al-Abbadi MA et al.

Cancers, 2025

Multimodal learning decodes the global binding landscape of chromatin-associated proteins.

Tan J et al.

Biorxiv : the Preprint Server for Biology, 2025

40832322 (PubMed )
Supplement: NIHPP2025.08.17.670761V1-supplement-1.pdf

Exploring The Prevalence of Telomerase Reverse Transcriptase Promoter Mutations in Bladder Cancer Patients and Their Correlation with Tumor Characteristics.

Ramadhan HH et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2025

Mechanistic basis of atypical TERT promoter mutations.

Elliott K et al.

Nature Communications, 2024

39557834 (PubMed )
Supplement: 41467_2024_54158_MOESM3_ESM.zip › Code › ICGC › data › ChIP › aab0015-bell-sm.tables.xlsx › 1_TERT_Mutation_Genotyping

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

Yedla P et al.

Cell Biochemistry and Function, 2024

Therapeutic targeting of PLK1 in TERT promoter-mutant hepatocellular carcinoma.

Tang Q et al.

Clinical and Translational Medicine, 2024

Whole tumor analysis reveals early origin of the TERT promoter mutation and intercellular heterogeneity in TERT expression.

Appin CL et al.

Neuro-oncology, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

Vasudevan HN et al.

Jama Network Open, 2023

37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_idenetified_in_Cohort2

GABP couples oncogene signaling to telomere regulation in TERT promoter mutant cancer.

McKinney AM et al.

Cell Reports, 2022

Conserved features of TERT promoter duplications reveal an activation mechanism that mimics hotspot mutations in cancer.

Barger CJ et al.

Nature Communications, 2022

G-Quadruplex Formed by the Promoter Region of the hTERT Gene: Structure-Driven Effects on DNA Mismatch Repair Functions.

Pavlova AV et al.

Biomedicines, 2022

Mutational Signature and Integrative Genomic Analysis of Human Papillomavirus-Associated Penile Squamous Cell Carcinomas from Latin American Patients.

Canto LM et al.

Cancers, 2022

A Targeted Next-Generation Sequencing Panel to Genotype Gliomas.

Guarnaccia M et al.

Life (basel, Switzerland), 2022

TERT Expression in Wilms Tumor Is Regulated by Promoter Mutation or Hypermethylation, WT1, and N-MYC.

Jablonowski CM et al.

Cancers, 2022

Transcription factor TFE3 enhances cell cycle and cancer progression by binding to the hTERT promoter.

Miao B et al.

Cancer Communications (london, England), 2021

The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Reilly CR et al.

Blood, 2021

TERT promoter mutation in sebaceous neoplasms.

Muñoz-Jiménez MT et al.

Virchows Archiv : an International Journal of Pathology, 2021

Cancer-specific loss of TERT activation sensitizes glioblastoma to DNA damage.

Amen AM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

The transcription factor FLI1 promotes cancer progression by affecting cell cycle regulation.

Miao B et al.

International Journal of Cancer, 2020

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

Characteristics of the isocitrate dehydrogenase gene and telomerase reverse transcriptase promoter mutations in gliomas in Chinese patients.

Qu CX et al.

Brain and Behavior, 2020

Combined genetic and epigenetic alterations of the TERT promoter affect clinical and biological behavior of bladder cancer.

Leão R et al.

International Journal of Cancer, 2019

TERT promoter mutation is associated with worse prognosis in WHO grade II and III meningiomas.

Biczok A et al.

Journal of Neuro-oncology, 2018

MassARRAY-based simultaneous detection of hotspot somatic mutations and recurrent fusion genes in papillary thyroid carcinoma: the PTC-MA assay.

Pesenti C et al.

Endocrine, 2018

Telomerase reverse transcriptase mutations in plasma DNA in patients with hepatocellular carcinoma or cirrhosis: Prevalence and risk factors.

Jiao J et al.

Hepatology Communications, 2018

Immunohistochemical and molecular genetic study on epithelioid glioblastoma: Series of seven cases with review of literature.

Khanna G et al.

Pathology, Research and Practice, 2018

Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas.

Hayes J et al.

Neuro-oncology, 2018

Biological and therapeutic implications of multisector sequencing in newly diagnosed glioblastoma.

Mahlokozera T et al.

Neuro-oncology, 2018

Mechanisms of human telomerase reverse transcriptase (hTERT) regulation: clinical impacts in cancer.

Leão R et al.

Journal of Biomedical Science, 2018

Toward Personalised Liquid Biopsies for Urothelial Carcinoma: Characterisation of ddPCR and Urinary cfDNA for the Detection of the TERT 228 G>A/T Mutation.

Russo IJ et al.

Bladder Cancer (amsterdam, Netherlands), 2018

Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status.

Pesenti C et al.

Oncotarget, 2017

Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination.

Vilarinho S et al.

Journal of Hepatology, 2017

Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma.

Unknown Author

Cell, 2017

Next-generation sequencing of urine specimens: A novel platform for genomic analysis in patients with non-muscle-invasive urothelial carcinoma treated with bacille Calmette-Guérin.

Scott SN et al.

Cancer Cytopathology, 2017

Control of Cellular Aging, Tissue Function, and Cancer by p53 Downstream of Telomeres.

Roake CM et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Prognostic Relevance of Tumor Purity and Interaction with MGMT Methylation in Glioblastoma.

Schulze Heuling E et al.

Molecular Cancer Research : Mcr, 2017

Clinicopathological significance of TERT promoter mutation in papillary thyroid carcinomas: a systematic review and meta-analysis.

Yin DT et al.

Clinical Endocrinology, 2016

TERT Promoter Mutations in Papillary Thyroid Microcarcinomas.

de Biase D et al.

Thyroid : Official Journal of the American Thyroid Association, 2015

Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer.

Bell RJ et al.

Science (new York, N.y.), 2015

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