Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R248W
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TERT

NM_198253.3:p.R248W

Associated Papers

IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread.

Hinz F et al.

Acta Neuropathologica, 2025

39899075 (PubMed )
Supplement: 401_2025_2849_MOESM1_ESM.xlsx › Tabelle1

Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: report of new cases and revision of the literature.

Casalini R et al.

Endocrine, 2025

Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.

Maloberti T et al.

Diagnostics (basel, Switzerland), 2024

38667446 (PubMed )
Supplement: diagnostics-14-00800-s001.zip › Supplementary_Table_S1.xlsx › Foglio1

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Type 2 deiodinase is expressed in anaplastic thyroid carcinoma and its inhibition causes cell senescence.

Angela De Stefano M et al.

Endocrine-related Cancer, 2023

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Broit N et al.

Pigment Cell & Melanoma Research, 2022

Detection of TERT Promoter Mutations Using Targeted Next-Generation Sequencing: Overcoming GC Bias through Trial and Error.

Lee H et al.

Cancer Research and Treatment, 2022

33940787 (PubMed )
Supplement: crt-2021-107_S3_Table.pdf

TP53 Mutations as a Driver of Metastasis Signaling in Advanced Cancer Patients.

Pandey R et al.

Cancers, 2021

Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Maturo MG et al.

Scientific Reports, 2020

32409749 (PubMed )
Supplement: 41598_2020_65057_MOESM1_ESM.pdf

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

D'Afonseca V et al.

Cancer Informatics, 2020

Comprehensive genomic profiling of high-grade serous ovarian carcinoma from Chinese patients identifies co-occurring mutations in the Ras/Raf pathway with TP53.

Zhong F et al.

Cancer Medicine, 2019

Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder.

Rodriguez Pena MDC et al.

Virchows Archiv : an International Journal of Pathology, 2017

TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.

Chien J et al.

Nucleic Acids Research, 2015

TP53 mutants in the tower of babel of cancer progression.

Bisio A et al.

Human Mutation, 2014

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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."