Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P23insFs
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CEBPA

NM_004364.5:p.P23insFs

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

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

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

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

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

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc6.xlsx › Sheet1

CD200 in acute myeloid leukemia: marked upregulation in CEBPA biallelic mutated cases.

González-Guerrero L et al.

Diagnostic Pathology, 2025

40307896 (PubMed )
Supplement: 13000_2025_1655_MOESM1_ESM.docx

Novel Co-frameshift mutations in N- and C-terminal regions of CEBPA in acute myeloid leukemia: A case report.

Mousaei Ghasroldasht M et al.

Cancer Genetics, 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

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

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

CEBPA double mutations associated with ABO antigen weakness in hematologic diseases.

Choi SJ et al.

Blood Advances, 2024

38359363 (PubMed )
Supplement: BLOODA_ADV-2023-011572-mmc1.xlsx › Supplementary_Table_5

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

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

[Allogeneic hematopoietic stem cell transplantation for Familial platelet disorder with a propensity for acute myeloid malignancies with Runx1 germline mutations: a case report and literature review].

Wang LL et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

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

Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data.

Nardi V et al.

Archives of Pathology & Laboratory Medicine, 2022

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

Akabari R et al.

Genes, 2022

Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Caprioli C et al.

Haematologica, 2021

32855275 (PubMed )
Supplement: 2020_252825_CAPRIOLI_SUPPL.pdf

Personalized Single-Cell Proteogenomics to Distinguish Acute Myeloid Leukemia from Non-Malignant Clonal Hematopoiesis.

Dillon LW et al.

Blood Cancer Discovery, 2021

Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia.

Wang F et al.

Nature Communications, 2021

33972549 (PubMed )
Supplement: 41467_2021_22874_MOESM4_ESM.xlsx › Supplementary_Data_3

A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.

Docking TR et al.

Nature Communications, 2021

33931648 (PubMed )
Supplement: 41467_2021_22625_MOESM4_ESM.xlsx › Supplementary_Data_11

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

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

Arindrarto W et al.

Leukemia, 2021

32127641 (PubMed )
Supplement: 41375_2020_762_MOESM1_ESM.pdf

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

Park J et al.

Molecular Diagnosis & Therapy, 2020

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf

Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing-Based Hematologic Malignancy Assays With Survey Material-Specific Differences in Variant Frequencies.

Keegan A et al.

Archives of Pathology & Laboratory Medicine, 2020

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

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

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

30840646 (PubMed )
Supplement: pone.0212228.s004.pdf

Isoform Switching as a Mechanism of Acquired Resistance to Mutant Isocitrate Dehydrogenase Inhibition.

Harding JJ et al.

Cancer Discovery, 2018

30355724 (PubMed )
Supplement: 21598290cd180877-sup-supplementary_data.xlsx › Table_S9___Case_4_NGS

Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.

Rothenberg-Thurley M et al.

Leukemia, 2018

29472724 (PubMed )
Supplement: 41375_2018_34_MOESM2_ESM.xlsx › Supplemental_Table_3

CEBPA mutational analysis in acute myeloid leukaemia by a laboratory-developed next-generation sequencing assay.

Ng CWS et al.

Journal of Clinical Pathology, 2018

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

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

DiNardo CD et al.

Clinical Lymphoma, Myeloma & Leukemia, 2016

Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.

Li S et al.

Nature Medicine, 2016

27322744 (PubMed )
Supplement: NIHMS786454-supplement-7.xlsx › Sheet1

Characterization of CEBPA Mutations and Polymorphisms and their Prognostic Relevance in De Novo Acute Myeloid Leukemia Patients.

Sarojam S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

Double CEBPA mutations are prognostically favorable in non-M3 acute myeloid leukemia patients with wild-type NPM1 and FLT3-ITD.

Wen XM et al.

International Journal of Clinical and Experimental Pathology, 2014

CEBPA single mutation can be a possible favorable prognostic indicator in NPM1 and FLT3-ITD wild-type acute myeloid leukemia patients with intermediate cytogenetic risk.

Park SH et al.

Leukemia Research, 2013

Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia: impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations.

Green CL et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2010

Prevalence and prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia (AML): a report from the Children's Oncology Group.

Ho PA et al.

Blood, 2009

Rapid and sensitive screening for CEBPA mutations in acute myeloid leukaemia.

Benthaus T et al.

British Journal of Haematology, 2008

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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."