Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.E113fs
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TERT

NM_198253.3:p.E113fs

Associated Papers

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

Pediatric therapy-related hematologic neoplasms show enrichment for KMT2A rearrangement and lymphoblastic phenotype.

Kovach AE et al.

Leukemia & Lymphoma, 2024

39116419 (PubMed )
Supplement: supplement_1.zip › Supplementary_files › Supp_Table_7.xlsx › Suppl_Table_7

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

Hao S et al.

Cancer Medicine, 2023

37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Somatic_variants

TERT Mutations in Non-Small Cell Lung Cancer: Clinicopathologic Features and Prognostic Implications.

Yang L et al.

Clinical Medicine Insights. Oncology, 2023

Novel Insights From the Germline Landscape of Breast Cancer in Brazil.

Barbalho D et al.

Frontiers in Oncology, 2021

Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors.

Walsh MF et al.

Jco Precision Oncology, 2019

Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

Donati B et al.

Cancer Medicine, 2017

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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."