Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.D76D
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IDH2

NM_002168.4:p.D76D

Associated Papers

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

RNA splicing analysis deciphers developmental hierarchies and reveals therapeutic targets in adult glioma.

Song X et al.

The Journal of Clinical Investigation, 2024

38662454 (PubMed )
Supplement: jci-134-173789-s102.xlsx › Table_9

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

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

Molecular landscape of pediatric type IDH wildtype, H3 wildtype hemispheric glioblastomas.

Hong L et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022

Detection of TERT Promoter Mutations as a Prognostic Biomarker in Gliomas: Methodology, Prospects, and Advances.

Hasanau T et al.

Biomedicines, 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

Clinico-neuropathological features of isocitrate dehydrogenase 2 gene mutations in lower-grade gliomas.

Wang LM et al.

Chinese Medical Journal, 2019

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

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

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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