Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.H24fs
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CEBPA

NM_004364.5:p.H24fs

Associated Papers

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

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S9___Molecular_Classification

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Clinical Manifestations and Ophthalmic Outcomes of Leukemic Retinopathy and Optic Neuropathy in Patients With Acute Leukemia.

Chen CY et al.

Investigative Ophthalmology & Visual Science, 2025

40747974 (PubMed )
Supplement: iovs-66-11-2_s002.xlsx › Table

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

Characterization of myeloproliferative neoplasms based on genetics only and prognostication of transformation to blast phase.

Walter W et al.

Leukemia, 2024

39341969 (PubMed )
Supplement: 41375_2024_2425_MOESM1_ESM.pdf

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf

Impact of different CEBPA mutations on therapeutic outcome in acute myeloid leukemia.

Zhao Y et al.

Annals of Hematology, 2024

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

T/myeloid MPAL with biallelic CEBPA mutations.

Zarif M et al.

Blood, 2023

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM3_ESM.xlsx › Somatic_variants

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_Indels

Technological Advances: CEBPA and FLT3 Internal Tandem Duplication Mutations Can be Reliably Detected by Next Generation Sequencing.

Akabari R et al.

Genes, 2022

Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications.

Molina Garay C et al.

Frontiers in Pediatrics, 2022

Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.

Andrés-Zayas C et al.

Molecular Oncology, 2021

Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.

Fenwarth L et al.

Haematologica, 2021

32554555 (PubMed )
Supplement: 2020_248872_FENWARTH_SUPPL.pdf

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.

Rosenthal SH et al.

Plos One, 2021

33909614 (PubMed )
Supplement: pone.0243683.s007.xlsx › S7C

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.

Park J et al.

Molecular Diagnosis & Therapy, 2020

Companion gene mutations and their clinical significance in AML with double mutant CEBPA.

Zhang Y et al.

Cancer Gene Therapy, 2020

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A et al.

Nature Communications, 2020

32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM5_ESM.xlsx › ST_2_Group_1_families

CSF3R mutations were associated with an unfavorable prognosis in patients with acute myeloid leukemia with CEBPA double mutations.

Su L et al.

Annals of Hematology, 2019

Mutational spectrum of acute myeloid leukemia patients with double CEBPA mutations based on next-generation sequencing and its prognostic significance.

Su L et al.

Oncotarget, 2018

A t(3;8)(q26.2;q24) involving the EVI1 (MECOM) Gene.

Liu K et al.

Journal of the Association of Genetic Technologists, 2018

Index case of acute myeloid leukemia in a family harboring a novel CEBPA germ line mutation.

Ram J et al.

Blood Advances, 2017

CEBPA-double-mutated acute myeloid leukemia displays a unique phenotypic profile: a reliable screening method and insight into biological features.

Mannelli F et al.

Haematologica, 2017

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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."