Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R248Q
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TERT

NM_198253.3:p.R248Q

Associated Papers

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

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

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_information_1_suppms1.pdf

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

Yang L et al.

Clinical Medicine Insights. Oncology, 2023

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

Canto LM et al.

Cancers, 2022

35884575 (PubMed )
Supplement: cancers-14-03514-s001.zip › cancers-1775552-supplementary.pdf

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Kim H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 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

Mutations inhibiting KDM4B drive ALT activation in ATRX-mutated glioblastomas.

Udugama M et al.

Nature Communications, 2021

33972520 (PubMed )
Supplement: 41467_2021_22543_MOESM1_ESM.pdf

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.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

The landscape of genomic alterations across childhood cancers.

Gröbner SN et al.

Nature, 2018

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."