Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.A49V
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TERT

NM_198253.3:p.A49V

Associated Papers

Deciphering the Genomic Landscape of Oropharyngeal Squamous Cell Carcinoma: Distinct Mutation Patterns in Disease.

Hsia B et al.

Life (basel, Switzerland), 2026

Molecular Relationship Between Ovarian Sertoli-Leydig Cell Tumors and Their Heterologous Elements: Emphasis on the Possible Prognostic Significance of TERT Pathogenic Variants.

Trecourt A et al.

The American Journal of Surgical Pathology, 2026

Frequent BRAF V600E and TERT promoter-mutated renal epithelial-predominant Wilms tumours with metanephric features: a distinct subset within the Wilms tumour spectrum?

Xu Y et al.

Histopathology, 2026

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Individualized management strategies for advanced non-small cell lung cancer with EGFR exon 19 deletion and L861Q compound mutations based on circulating tumor DNA monitoring: A case report.

Zhu X et al.

Oncology Letters, 2026

41509005 (PubMed )
Supplement: Supplementary_Data2.pdf

Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder.

Zeigler LP et al.

Hgg Advances, 2026

41139959 (PubMed )
Supplement: mmc1.pdf

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S8

Distal noncontiguous recurrence and sarcomatous transformation of glioblastoma with stable molecular profile: illustrative case.

Howran J et al.

Journal of Neurosurgery. Case Lessons, 2026

The Occurrence of Gene Fusions in Thyroid Lesions and the Relation With Chronic Lymphocytic Thyroiditis.

Jentus MM et al.

Pathology International, 2026

41492106 (PubMed )
Supplement: PIN-76-0-s003.docx

Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.

Evrard O et al.

Erj Open Research, 2026

Genetic Drivers of Sensitivity or Resistance to RAS(ON) Multi-Selective Inhibitors in NRAS-Mutated Melanoma.

Foth M et al.

Biorxiv : the Preprint Server for Biology, 2025

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer.

Nikkola J et al.

Cell Reports, 2025

High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.

Zambelli V et al.

Endocrine Pathology, 2025

41123735 (PubMed )
Supplement: 12022_2025_9883_MOESM4_ESM.xlsx › Foglio1

Diagnosis and management of adult telomere biology disorders.

Franke M et al.

Haematologica, 2025

Investigation of Possible Telomerase Reverse Transcriptase Promoter Mutation in Human Chemically Induced Liver Progenitors.

Askeyev B et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2025

Telomerase Reverse Transcriptase-mutated Follicular Variant Papillary Thyroid Cancer With Tibial Metastasis.

Chan N et al.

Jcem Case Reports, 2025

Molecular Characterization of a Rare Glioblastoma Case With Atypical Histopathologic Features.

Gvazava N et al.

Oncology (williston Park, N.y.), 2025

Progression of Follicular Thyroid Carcinomas to Anaplastic Thyroid Carcinomas: Molecular and Clinicopathologic Characteristics with Comparison to Papillary Thyroid Carcinoma-Derived Anaplastic Thyroid Carcinomas.

Odate T et al.

Endocrine Pathology, 2025

Malignant Transformation in Pleomorphic Adenoma: The Impact of DNA Methylation Profiling and Pathogenic Mutations.

Uro-Coste E et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Exploring the role of TERT in thyroid Cancer: A systematic review.

Maloberti T et al.

Critical Reviews in Oncology/hematology, 2025

Case of Relapsed, Metastatic Cutaneous Squamous Cell Carcinoma With HER2 Mutation Treated With Trastuzumab.

Kye Y et al.

Clinical Case Reports, 2025

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

Al-Abbadi MA et al.

Cancers, 2025

Clinicopathologic Features, Management, and Outcomes Of Pediatric CRTC1::TRIM11 and MED15::ATF1 Tumors With Spitzoid Morphology: A Case Series.

Sargen MR et al.

Pediatric Blood & Cancer, 2025

Involvement of KEAP1/NRF2 pathway in non-BRAF mutated squamous cell carcinoma of the thyroid.

Schoultz E et al.

The Journal of Pathology, 2025

Role of TERT gene mutation in the pathogenesis of anaplastic thyroid carcinoma (Review).

Alhejaily AG et al.

Molecular and Clinical Oncology, 2025

TERT Promoter C228T and C250T Hotspot Mutations Are Absent in BRAF V600E-Positive Langerhans Cell Histiocytosis.

Silva AMD et al.

Cancer Medicine, 2025

Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.

Mettman D et al.

Federal Practitioner : for the Health Care Professionals of the Va, Dod, and Phs, 2025

The -124C>T Mutation of the TERT Promoter Indicates Favorable Prognosis in Ovarian Clear Cell Carcinoma: A Single Institutional Study in China.

Zhou X et al.

Current Oncology (toronto, Ont.), 2025

High Prevalence of TERT and CTNNB1 Mutations in Brazilian HCC Tissues: Insights into Early Detection and Risk Stratification.

Sant'Anna TBF et al.

International Journal of Molecular Sciences, 2025

Dual TERT promoter mutations in an oligodendroglioma, IDH-mutant, 1p/19q co-deleted.

Fernandopulle MS et al.

Journal of Neuropathology and Experimental Neurology, 2025

Molecular profile of adult primary leptomeningeal gliomatosis aligns with glioblastoma, IDH-wildtype.

Zhu Y et al.

Brain Pathology (zurich, Switzerland), 2025

Genomic Differences in Thyroid Cancers From Primary Sites Versus Distant Metastases in Individual Patients: A Clinical Perspective and Preliminary Report.

Lin YB et al.

Head & Neck, 2025

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

Combined genomic and molecular analysis defines prognostic markers of relapse in stage IA-IC1 clear cell ovarian carcinoma.

Iida Y et al.

Gynecologic Oncology, 2025

Patient-derived organoids inform pharmacogenomic vulnerabilities in liver cancer.

Wong AM et al.

Jhep Reports : Innovation in Hepatology, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › SUPPLEMENTARY_TABLE_1.xlsx › Comparison_FFPE

NOVEL INSIGHTS IN ADVANCED THYROID CARCINOMA: FROM MECHANISMS TO TREATMENTS: Molecular insights into the origin, biology, and treatment of anaplastic thyroid carcinoma.

Karimi AH et al.

European Thyroid Journal, 2025

Regulatory SNP of TERT promoter accompanied by C228T and BRAFV 600E is an exacerbating factor of papillary thyroid carcinoma.

Nakazato Y et al.

Oncology Letters, 2025

False negative rate and concordance of ThyGeNEXT®+ThyraMIR® testing with post-thyroidectomy histopathology.

Mohammed SS et al.

Journal of Clinical & Translational Endocrinology, 2025

Regulation of Human Telomerase: from Molecular Interactions to Population Genetics.

Martin A et al.

Cold Spring Harbor Perspectives in Biology, 2025

Integrative proteogenomic characterization reveals therapeutic targets in poorly differentiated and anaplastic thyroid cancers.

Pan Z et al.

Nature Communications, 2025

40234451 (PubMed )
Supplement: 41467_2025_58910_MOESM10_ESM.pdf

The ability of anexelekto (AXL) expression and TERT promoter mutation to predict radioiodine-refractory differentiated thyroid carcinoma.

Agustina H et al.

Diagnostic Pathology, 2025

Clinical Validation of the TruSight Oncology 500 Assay for the Detection and Reporting of Pan-Cancer Biomarkers.

Al-Kateb H et al.

The Journal of Molecular Diagnostics : Jmd, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."