Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P23delFs
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CEBPA

NM_004364.5:p.P23delFs

Associated Papers

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.

Elbaz Younes I et al.

Cancers, 2026

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

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: mmc9.xlsx › Sheet1

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

González-Guerrero L et al.

Diagnostic Pathology, 2025

Acute Myeloid Leukemia With NPM1 Mutation Presenting With Rapidly Progressing Hypereosinophilia.

Einarsdottir S et al.

Case Reports in Hematology, 2025

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

Acute myeloid leukemia with concurrent NPM1 and RUNX1 mutations.

Zuo Z et al.

Leukemia Research Reports, 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

Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Gutierrez-Rodrigues F et al.

Haematologica, 2022

34587721 (PubMed )
Supplement: 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

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

Acute Myeloid Leukemia With CEBPA Mutations: Current Progress and Future Directions.

Su L et al.

Frontiers in Oncology, 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

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_12

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.

Aguilera-Diaz A et al.

Plos One, 2020

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

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

28250006 (PubMed )
Supplement: 2016.151910.MANNELLI_SUPPL.pdf

A clinical grade sequencing-based assay for CEBPA mutation testing: report of a large series of myeloid neoplasms.

Behdad A et al.

The Journal of Molecular Diagnostics : Jmd, 2015

GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations.

Green CL et al.

British Journal of Haematology, 2013

Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes.

Carmichael CL et al.

British Journal of Haematology, 2010

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

CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma.

Fuchs O et al.

Blood Cells, Molecules & Diseases, 0

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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."