Varaico: Literature-Extracted Genetic Variants

Gene:H3-3A
Variant:p.K28M
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H3-3A

NM_002107.7:p.K28M

Associated Papers

Cell-free DNA from cerebrospinal fluid cytology specimens as a novel liquid biopsy approach for pediatric patients with primary central nervous system tumors.

Chun N et al.

Acta Neuropathologica Communications, 2026

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Adult-Onset Diffuse Midline Glioma, H3K27-Altered: A Genomics-Guided, Individualized, Multimodal Treatment Approach.

Çelebi A et al.

Brain Sciences, 2026

Analytical Validation and Clinical Sensitivity of the Belay Summit™ 2.0 Cerebrospinal Fluid Liquid Biopsy Test-An Expanded Comprehensive Genomic Profiling Platform for Central Nervous System Malignancies.

Khurana S et al.

Cancers, 2026

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.1_pVACseq

Patient-derived tumoroids recapitulate the morphologic and molecular features of pediatric brain tumors.

Soares-Ferreira B et al.

Npj Precision Oncology, 2025

41315743 (PubMed )
Supplement: 41698_2025_1151_MOESM1_ESM.pdf

Diffuse hemispheric glioma, H3 G34-mutant, a single centre experience and histopathological analysis.

Amer F et al.

Virchows Archiv : an International Journal of Pathology, 2025

Diffuse midline glioma with extra central nervous system metastases in the pediatric, adolescent, and young adult population.

Giantini-Larsen AM et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025

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

Fernández-Gajardo R et al.

Scientific Reports, 2025

Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult.

Youssef M et al.

The Journal of Liquid Biopsy, 2025

MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.

Miller AR et al.

Bmc Cancer, 2025

40849662 (PubMed )
Supplement: 12885_2025_14711_MOESM2_ESM.xlsx › TableS8_Probe_seq

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

The Open Pediatric Cancer Project.

Geng Z et al.

Biorxiv : the Preprint Server for Biology, 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

Liquid biopsy for the detection of H3K27m in patients with brainstem tumors.

Gavrjushin AV et al.

Neurosurgical Review, 2025

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

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_MOESM8_ESM.xlsx › Supplementary_Data_6

The Open Pediatric Cancer Project.

Geng Z et al.

Gigascience, 2025

[Liquid biopsy for detection of H3K27m and BRAF V600E mutations in patients with diffuse brainstem tumors].

Gavryushin AV et al.

Zhurnal Voprosy Neirokhirurgii Imeni N. N. Burdenko, 2025

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.

Wallen ZD et al.

Frontiers in Genetics, 2025

40385986 (PubMed )
Supplement: Supplementaryfile1.xlsx › Supplementary_Table_3

PALB2 deficiency may sensitize H3K27M-mutant pediatric HGG cells to BMN673/talazoparib.

Guan X et al.

Frontiers in Oncology, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_35d_TISF

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

Fulminant leptomeningeal disease diagnosed as comutant H3F3A and FGFR diffuse midline glioma.

Benistant L et al.

Annals of Clinical and Translational Neurology, 2024

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

Characteristics of H3K27M-mutant diffuse gliomas with a non-midline location.

Guidara S et al.

Journal of Neuro-oncology, 2024

ASXL1 inactivation and reduced H3K27me3 across central nervous system tumors.

Zhang KY et al.

Acta Neuropathologica, 2024

39141113 (PubMed )
Supplement: 401_2024_2785_MOESM2_ESM.xlsx › STab2

Neuroradiological, genetic and clinical characteristics of histone H3 K27-mutant diffuse midline gliomas in the Kansai Molecular Diagnosis Network for CNS Tumors (Kansai Network): multicenter retrospective cohort.

Hayashi N et al.

Acta Neuropathologica Communications, 2024

Detection of tumor-derived cell-free DNA in cerebrospinal fluid using a clinically validated targeted sequencing panel for pediatric brain tumors.

Ronsley R et al.

Journal of Neuro-oncology, 2024

Diffuse hemispheric glioma with H3 p.K28M (K27M) mutation: Unusual non-midline presentation of diffuse midline glioma, H3 K27M-altered?

Donev K et al.

Journal of Neuropathology and Experimental Neurology, 2024

A longitudinal single-cell and spatial multiomic atlas of pediatric high-grade glioma.

Sussman JH et al.

Biorxiv : the Preprint Server for Biology, 2024

38496580 (PubMed )
Supplement: media-2.zip › Supplemental_Table_1.xlsx › pHGG_Cohort

The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.

Shirai Y et al.

Journal of Neuro-oncology, 2024

38363490 (PubMed )
Supplement: 11060_2024_4563_MOESM1_ESM.xlsx › Supplementary_Data_2

Sequencing of cerebrospinal fluid cell-free DNA facilitated early differential diagnosis of intramedullary spinal cord tumors.

Chai R et al.

Npj Precision Oncology, 2024

Glioma genetic profiles associated with electrophysiologic hyperexcitability.

Tobochnik S et al.

Neuro-oncology, 2024

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

A Retrospective Genomic Landscape of 661 Young Adult Glioblastomas Diagnosed Using 2016 WHO Guidelines for Central Nervous System Tumors.

Haberberger JF et al.

The Oncologist, 2024

An extremely rare case of primary alveolar rhabdomyosarcoma in the central nervous system.

Nishikawa M et al.

Surgical Neurology International, 2024

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Molecular profiling of pre- and post-treatment pediatric high-grade astrocytomas reveals acquired increased tumor mutation burden in a subset of recurrences.

Wood MD et al.

Acta Neuropathologica Communications, 2023

Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.

Stundon JL et al.

Neuro-oncology, 2023

36541551 (PubMed )
Supplement: noac278_suppl_supplementary_material.docx

Genomic profiling and prognostic factors of H3 K27M-mutant spinal cord diffuse glioma.

Chai RC et al.

Brain Pathology (zurich, Switzerland), 2023

36751054 (PubMed )
Supplement: BPA-33-e13153-s008.pdf
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