Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.K313ins0
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CEBPA

NM_004364.5:p.K313ins0

Associated Papers

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

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

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

Application of droplet digital PCR in minimal residual disease monitoring of rare fusion transcripts and mutations in haematological malignancies.

Ip BBK et al.

Scientific Reports, 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

Clinical features and management of germline CEBPA-mutated carriers.

Pan L et al.

Leukemia Research, 2024

Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants.

Harrigan AM et al.

Familial Cancer, 2023

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

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

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

Su L et al.

Frontiers in Oncology, 2022

Germline mutations among Polish patients with acute myeloid leukemia.

Bąk A et al.

Hereditary Cancer in Clinical Practice, 2021

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

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

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

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

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

Ng CWS et al.

Journal of Clinical Pathology, 2018

Clinical relevance of IDH1/2 mutant allele burden during follow-up in acute myeloid leukemia. A study by the French ALFA group.

Ferret Y et al.

Haematologica, 2018

29472349 (PubMed )
Supplement: 2017.183525.FERRET_SUPPL.pdf

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

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

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

Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial.

Renneville A et al.

Oncotarget, 2014

24659740 (PubMed )
Supplement: oncotarget-05-916-s001.pdf

Bioinformatics interpretation of exome sequencing: blood cancer.

Kim J et al.

Genomics & Informatics, 2013

23613679 (PubMed )
Supplement: gni-11-24-s001.pdf

Characterization of CEBPA mutations and promoter hypermethylation in pediatric acute myeloid leukemia.

Hollink IH et al.

Haematologica, 2011

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

Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis.

Pabst T et al.

British Journal of Cancer, 2009

19277035 (PubMed )
Supplement: 6604977x1.doc

K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML).

Carnicer MJ et al.

Annals of Hematology, 2008

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."