Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.H24fs
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CEBPA

NM_004364.5:p.H24fs

Associated Papers

bZIP-Domain Variant Allele Frequency Helps to Refine Risk Stratification in CEBPA-Mutated AML.

Zhang K et al.

Biomedicines, 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

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

A heterozygous CEBPA mutation disrupting the bZIP domain in a RUNX1 and SRSF2 mutational background causes MDS disease progression.

Almaghrabi R et al.

Nature Communications, 2025

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

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

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

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

Patient-Derived iPSCs Faithfully Represent the Genetic Diversity and Cellular Architecture of Human Acute Myeloid Leukemia.

Kotini AG et al.

Blood Cancer Discovery, 2023

37067914 (PubMed )
Supplement: bcd-22-0167_supplementary_tables_1-6_suppst1-st6.pdf

Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia.

Wang Y et al.

Clinical and Translational Medicine, 2023

37345307 (PubMed )
Supplement: CTM2-13-e1309-s003.xlsx › Table_1

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_MOESM4_ESM.xlsx › Sheet1

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

Nardi V et al.

Archives of Pathology & Laboratory Medicine, 2022

Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Tan J et al.

Bmc Medical Genomics, 2022

Sequential CRISPR gene editing in human iPSCs charts the clonal evolution of myeloid leukemia and identifies early disease targets.

Wang T et al.

Cell Stem Cell, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

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

Clinical performance and utility of a comprehensive next-generation sequencing DNA panel for the simultaneous analysis of variants, TMB and MSI for myeloid neoplasms.

Sahajpal NS et al.

Plos One, 2020

Comutation and exclusion analysis in human tumors: A tool for cancer biology studies and for rational selection of multitargeted therapeutic approaches.

Ochoa S et al.

Human Mutation, 2019

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

Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Tarlock K et al.

Oncotarget, 2018

29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics

The modular network structure of the mutational landscape of Acute Myeloid Leukemia.

Ibáñez M et al.

Plos One, 2018

30303964 (PubMed )
Supplement: pone.0202926.s006.pdf

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

Ram J et al.

Blood Advances, 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

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

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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."