Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.I76I
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IDH1

NM_005896.4:p.I76I

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

Clinical utility of a blood based assay for the detection of IDH1.R132H-mutant gliomas.

Batool SM et al.

Nature Communications, 2024

39152110 (PubMed )
Supplement: 41467_2024_51332_MOESM1_ESM.pdf

Clinical and molecular features of patients with IDH1 wild-type primary glioblastoma presenting unexpected short-term survival after gross total resection.

Toyoda M et al.

Journal of Neuro-oncology, 2024

Dissecting the prognostic signature of patients with astrocytoma isocitrate dehydrogenase-mutant grade 4: a large multicenter, retrospective study.

Dipasquale A et al.

Esmo Open, 2024

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

Whole tumor analysis reveals early origin of the TERT promoter mutation and intercellular heterogeneity in TERT expression.

Appin CL et al.

Neuro-oncology, 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

IDH1 mutation predicts seizure occurrence and prognosis in lower-grade glioma adults.

Tang T et al.

Pathology, Research and Practice, 2024

Comparative genomic landscape of lower-grade glioma and glioblastoma.

Sun X et al.

Plos One, 2024

39208202 (PubMed )
Supplement: pone.0309536.s004.xlsx › S1_Table

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

Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics.

Śledzińska P et al.

Molecular Diagnosis & Therapy, 2022

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

Hasanau T et al.

Biomedicines, 2022

Oligosarcomas, IDH-mutant are distinct and aggressive.

Suwala AK et al.

Acta Neuropathologica, 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

Distinct TERT promoter C228T and C250T mutations in a patient with an oligodendroglioma: A case report.

Ishi Y et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2021

Molecular Pathology of Non-familial Follicular Epithelial-Derived Thyroid Cancer in Adults: From RAS/BRAF-like Tumor Designations to Molecular Risk Stratification.

Soares P et al.

Endocrine Pathology, 2021

Establishment and Validation of the Detection of TERT Promoter Mutations by Human Gliomas U251 Cell Lines.

Bai H et al.

Biomed Research International, 2021

34159191 (PubMed )
Supplement: 3271395.f1.docx

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

Oligodendroglioma showing pleomorphic xanthoastrocytoma-like perivascular microlesion: With IDH1, TERT promoter mutation and 1p/19q codeletion detected in both components.

Murakami C et al.

Pathology International, 2020

Detection of IDH1 and TERT promoter mutations with droplet digital PCR in diffuse gliomas.

Ge J et al.

International Journal of Clinical and Experimental Pathology, 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

Deep sequencing of a recurrent oligodendroglioma and the derived xenografts reveals new insights into the evolution of human oligodendroglioma and candidate driver genes.

Exner ND et al.

Oncotarget, 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

FGFR1 actionable mutations, molecular specificities, and outcome of adult midline gliomas.

Picca A et al.

Neurology, 2018

Preclinical and clinical implications of TERT promoter mutation in glioblastoma multiforme.

Jeong DE et al.

Oncology Letters, 2017

Primary Astrocytic Tumours and Paired Recurrences have Similar Biological Features in IDH1, TP53 and TERTp Mutation and MGMT, ATRX Loss.

Li X et al.

Scientific Reports, 2017

29026176 (PubMed )
Supplement: 41598_2017_13272_MOESM2_ESM.xlsx › Sheet1

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

Copy Number Profiling of Brazilian Astrocytomas.

Bidinotto LT et al.

G3 (bethesda, Md.), 2016

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

TERT promoter mutations in renal cell carcinomas and upper tract urothelial carcinomas.

Wang K et al.

Oncotarget, 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

TERT Promoter Mutation in Adult Glioblastomas: It's Correlation with Other Relevant Molecular Markers.

Barange M et al.

Neurology India, 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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