Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.R132S
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IDH1

NM_005896.4:p.R132S

Associated Papers

Synchronous diagnosis of multicentric glioma with distinct isocitrate dehydrogenase molecular profiles: a case report.

Mohan AA et al.

Cns Oncology, 2026

A Case of IDH-Mutant Astrocytoma Harboring an IDH2 R172_H173delinsSN Variant.

Auen T et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2026

Olutasidenib in recurrent/relapsed locally advanced or metastatic IDH1-mutated chondrosarcoma: phase 1b/2 trial.

Jones RL et al.

Nature Communications, 2026

Evaluation of the Idylla IDH1-2 Mutation Assay for the Detection of IDH Variants in Solid Tumors and Hematological Malignancies.

Gilson P et al.

International Journal of Molecular Sciences, 2026

Autopalmitoylation of IDH1-R132H regulates its neomorphic activity in cancer cells.

Hu L et al.

Nature Chemical Biology, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

MAPK Pathway Mutations Emerge in Mutant-IDH1 Inhibitor-Resistant Cholangiocarcinoma and Attenuate the Interferon Response.

Wan J et al.

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

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Integrative machine learning-guided in silico and in vitro approach reveals selective small molecule inhibitors targeting mutant IDH1.

Bajaj M et al.

Rsc Advances, 2025

Outcomes of Patients With IDH1-Mutated Myeloid Neoplasms Treated With Olutasidenib.

Chien KS et al.

Clinical Lymphoma, Myeloma & Leukemia, 2025

Final Results from a First-in-Human Phase I Study of the Dual Isocitrate Dehydrogenase (IDH) 1/2 Inhibitor, LY3410738, in Advanced Solid Tumors Harboring IDH1 or IDH2 Mutations.

Harding JJ et al.

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

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM5_ESM.xlsx › Sheet3

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

IDH2 mutation is associated with favorable outcome among older adults with newly diagnosed acute myeloid leukemia treated with hypomethylating agent-based therapy.

Hoff FW et al.

Haematologica, 2025

Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.

Morote-Faubel M et al.

Human Genomics, 2025

Differential impact of IDH1/2 mutations on outcome in adult acute myeloid leukemia patients.

Yang W et al.

Cancer Genetics, 2025

Utility of IDH1/2 mutations as biomarkers for detection of measurable residual disease in acute myeloid leukemia.

Boertjes EL et al.

Blood Advances, 2025

40674738 (PubMed )
Supplement: BLOODA_ADV-2025-016726-mmc1.pdf

Characterization of the mutational status of glioblastoma and high-grade astrocytomas in a Latin American cohort.

Fernández-Gajardo R et al.

Scientific Reports, 2025

Ultra-Fast Intraoperative IDH-Mutation Analysis Enables Rapid Stratification and Therapy Planning in Diffuse Gliomas.

Kraus TFJ et al.

International Journal of Molecular Sciences, 2025

Molecular Landscape of Pediatric Low-Grade Gliomas: Insights From RNA-NGS and Bioinformatic Analysis.

Brož P et al.

Genes, Chromosomes & Cancer, 2025

Clinicopathological and Molecular Profiling of Adult-Type Diffuse Glioma Using Immunohistochemistry and Real-Time Polymerase Chain Reaction: Study from a Tertiary Care Cancer Center in Western India.

Kaur K et al.

Neurology India, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Molecular analysis of adolescent and young adult high grade gliomas in the SPECTA-AYA study: Poorly characterised tumours with frequent germline alterations.

Morfouace M et al.

European Journal of Cancer (oxford, England : 1990), 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

In-depth characterization of vaccine-induced neoantigen-specific T cells in patients with IDH1-mutant glioma undergoing personalized peptide vaccination.

Zelba H et al.

Journal for Immunotherapy of Cancer, 2025

Establishment and characterization of TK-DDCS1: a novel IDH1 mutated dedifferentiated chondrosarcoma cell line.

Saisuwan K et al.

Human Cell, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Catalytically distinct metabolic enzyme isocitrate dehydrogenase 1 mutants tune phenotype severity in tumor models.

Schwartz AV et al.

The Journal of Biological Chemistry, 2025

Association Between B-Cell Marker Expression and RUNX1 Lesions in Acute Myeloid Leukemia, Beyond RUNX1::RUNX1T1 Fusion: Diagnostic Pitfalls with Mixed-Phenotype Acute Leukemia-B/Myeloid.

George GV et al.

Cancers, 2025

Reviewing the IDH1 Mutation-Mediated Mechanism of Drug Resistance and Revisiting Its Overcoming Strategies.

Wang Y et al.

Chemical Biology & Drug Design, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Isocitrate dehydrogenase 1 gene mutations: a case review unveiling its biological impact on disease progression, prognosis and treatment in Chilean patients.

de Mayo Glasser T et al.

Bjr Case Reports, 2025

Evaluation of an IDH1/2 Mutation FastTrack Assay for Patients with Cholangiocarcinoma.

Winter M et al.

Cancers, 2025

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

Measurable residual mutated IDH1 before allogeneic transplant for acute myeloid leukemia.

Gui G et al.

Bone Marrow Transplantation, 2025

39506075 (PubMed )
Supplement: 41409_2024_2447_MOESM1_ESM.pdf

The Validation of Digital PCR-Based Minimal Residual Disease Detection for the Common Mutations in IDH1 and IDH2 Genes in Patients with Acute Myeloid Leukemia.

Di J et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.

Baldazzi C et al.

International Journal of Molecular Sciences, 2025

39940930 (PubMed )
Supplement: ijms-26-01162-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1

Concurrent RB1 and P53 pathway disruption predisposes to the development of a primitive neuronal component in high-grade gliomas depending on MYC-driven EBF3 transcription.

Pagani F et al.

Acta Neuropathologica, 2025

Mutated DNMT3A creates a public HLADQ- binding neoantigen on acute myeloid leukemia.

van der Lee DI et al.

Frontiers in Immunology, 2025

40151616 (PubMed )
Supplement: DataSheet1.docx

A case report on IDH-mutant astrocytoma, CNS WHO grade 4: multi-omic characterization of untreated clinical progression.

Tang X et al.

Frontiers in Oncology, 2025

Contemporary Precision Stratification and Prognostic Features of Primary Gliomas in a Southern Chinese Population.

Qu S et al.

Research (washington, D.c.), 2025

Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients.

Echeverría O et al.

Frontiers in Neurology, 2025

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Detection of KMT2A Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.

Wei Q et al.

Cancers, 2024

Brainstem Gliomas With Isocitrate Dehydrogenase Mutation: Natural History, Clinical-Radiological Features, Management Strategy, and Long-Term Outcome.

Pan C et al.

Neurosurgery, 2024

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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."