Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.L84F
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IDH2

NM_002168.4:p.L84F

Associated Papers

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

Zhu Y et al.

Brain Pathology (zurich, Switzerland), 2025

Rapid intraoperative amplicon sequencing of CNS tumor markers.

Evers M et al.

Computational and Structural Biotechnology Journal, 2024

39606159 (PubMed )
Supplement: mmc1.docx

Prognostic Impact of TERT Promoter Mutations in Adult-Type Diffuse Gliomas Based on WHO2021 Criteria.

Lee Y et al.

Cancers, 2024

The C250T Mutation of TERTp Might Grant a Better Prognosis to Glioblastoma by Exerting Less Biological Effect on Telomeres and Chromosomes Than the C228T Mutation.

Gorria T et al.

Cancers, 2024

Reliable detection of genetic alterations in cyst fluid DNA for the diagnosis of brain tumors.

On J et al.

Journal of Neuro-oncology, 2024

Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.

Lee K et al.

Scientific Reports, 2023

Association of human telomerase reverse transcriptase promoter mutation with unfavorable prognosis in glioma: A systematic review and meta-analysis.

Hua R et al.

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2023

The correlation analysis of TERT promoter mutations with IDH1/2 mutations and 1p/19q detected in human gliomas.

Xu J et al.

Medicine, 2022

Temozolomide-induced myelotoxicity and single nucleotide polymorphisms in the MGMT gene in patients with adult diffuse glioma: a single-institutional pharmacogenetic study.

Moitra P et al.

Journal of Neuro-oncology, 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

A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications.

Tirrò E et al.

Frontiers in Oncology, 2022

35372034 (PubMed )
Supplement: Table_4.xlsx › Foglio1

Alternative lengthening of telomeres is the major telomere maintenance mechanism in astrocytoma with isocitrate dehydrogenase 1 mutation.

Ferreira MSV et al.

Journal of Neuro-oncology, 2020

Multiplexed Droplet Digital PCR Assays for the Simultaneous Screening of Major Genetic Alterations in Tumors of the Central Nervous System.

Appay R et al.

Frontiers in Oncology, 2020

33282733 (PubMed )
Supplement: Table_1.xlsx › Feuil1

Prognostic significance of human telomerase reverse transcriptase promoter region mutations C228T and C250T for overall survival in spinal chordomas.

Bettegowda C et al.

Neuro-oncology, 2019

TERT Promoter Mutation Detection in Cell-Free Tumor-Derived DNA in Patients with IDH Wild-Type Glioblastomas: A Pilot Prospective Study.

Juratli TA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Human glioblastoma arises from subventricular zone cells with low-level driver mutations.

Lee JH et al.

Nature, 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

TERT Promoter Mutations but not the Alternative Lengthening of Telomeres Phenotype Are Present in a Subset of Ependymomas and Are Associated With Adult Onset and Progression to Ependymosarcoma.

Brügger F et al.

Journal of Neuropathology and Experimental Neurology, 2017

TERT promoter mutations and rs2853669 polymorphism: prognostic impact and interactions with common alterations in glioblastomas.

Nencha U et al.

Journal of Neuro-oncology, 2016

Biomarker-based prognostic stratification of young adult glioblastoma.

Zhang RQ et al.

Oncotarget, 2016

TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma.

Mosrati MA et al.

Oncotarget, 2015

Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia.

Papathomas TG et al.

Endocrine-related Cancer, 2014

Identification of subsets of IDH-mutant glioblastomas with distinct epigenetic and copy number alterations and stratified clinical risks.

Li KK et al.

Neuro-oncology Advances, 0

Liquid biopsy with multiplex ligation-dependent probe amplification targeting cell-free tumor DNA in cerebrospinal fluid from patients with adult diffuse glioma.

Otsuji R et al.

Neuro-oncology Advances, 0

Plasma ctDNA liquid biopsy of IDH1, TERTp, and EGFRvIII mutations in glioma.

Jones JJ et al.

Neuro-oncology Advances, 0

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