Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.S190_H191ins2
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CEBPA

NM_004364.5:p.S190_H191ins2

Associated Papers

From Sanger to Oxford Nanopore MinION Technology: The Impact of Third-Generation Sequencing on Genetic Hematological Diagnosis.

Larráyoz MJ et al.

Cancers, 2025

Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.

Rondoni M et al.

Cancers, 2025

40227798 (PubMed )
Supplement: cancers-17-01213-s001.zip › cancers-3416916-supplementary.pdf

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.

Nesic K et al.

Molecular Cancer, 2024

39103848 (PubMed )
Supplement: 12943_2024_2048_MOESM1_ESM.xlsx › Table_S5_-_NGS_data

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

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

The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.

Liu M et al.

The Oncologist, 2023

37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations

Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.

Perani A et al.

Frontiers in Oncology, 2023

36923434 (PubMed )
Supplement: DataSheet_1.zip › Data_Sheet_1 › Table_S3.xlsx › 3_Patient_12_second_transplant_

The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease's phenotype.

Sobieralski P et al.

Frontiers in Oncology, 2023

37671053 (PubMed )
Supplement: Table_1.xlsx › ST1

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU620

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

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s007.xlsx › Table_S3C

Germline mutations among Polish patients with acute myeloid leukemia.

Bąk A et al.

Hereditary Cancer in Clinical Practice, 2021

Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.

Nagano M et al.

Npj Precision Oncology, 2021

34158601 (PubMed )
Supplement: 41698_2021_201_MOESM2_ESM.xlsx › Supplementary_Table_1

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

Germline mutations and blood malignancy (Review).

Gong Y et al.

Oncology Reports, 2021

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s10.xlsx › FN_Polymorphisms

Are Sporadic Eosinophilic Solid and Cystic Renal Cell Carcinomas Characterized by Somatic Tuberous Sclerosis Gene Mutations?

Parilla M et al.

The American Journal of Surgical Pathology, 2018

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S et al.

Bmc Medical Genetics, 2018

29929473 (PubMed )
Supplement: 12881_2018_605_MOESM2_ESM.xlsx › all_gene_variants

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

Ng CWS et al.

Journal of Clinical Pathology, 2018

Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.

Yi Z et al.

Scientific Reports, 2017

28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf

The significance of c.690G>T polymorphism (rs34529039) and expression of the CEBPA gene in ovarian cancer outcome.

Konopka B et al.

Oncotarget, 2016

CEBPA methylation and mutation in myelodysplastic syndrome.

Wen XM et al.

Medical Oncology (northwood, London, England), 2015

Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population.

Park SH et al.

Annals of Laboratory Medicine, 2015

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

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

Novel mutations in CEBPA in Korean Patients with acute myeloid leukemia with a normal karyotype.

Kim S et al.

Annals of Laboratory Medicine, 2012

First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation.

Xiao H et al.

Blood, 2011

Combined testing for CCAAT/enhancer-binding protein alpha (CEBPA) mutations and promoter methylation in acute myeloid leukemia demonstrates shared phenotypic features.

Szankasi P et al.

Leukemia Research, 2011

CCAAT/enhancer-binding protein alpha (CEBPA) polymorphisms and mutations in healthy individuals and in patients with peripheral artery disease, ischaemic heart disease and hyperlipidaemia.

Fuchs O et al.

Folia Biologica, 2010

[Detection of CCAAT/enhancer binding protein alpha gene mutations in acute myeloid leukemia].

Zhao JM et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2005

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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."