Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A71delFs
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CEBPA

NM_004364.5:p.A71delFs

Associated Papers

Aggressive Disease and Poor Clinical Outcome in CEBPα-Mutated Acute Myeloid Leukemia Patient.

Alshammari AA et al.

Clinical Case Reports, 2025

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

Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia.

Mendoza H et al.

International Journal of Laboratory Hematology, 2021

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.

Pathak A et al.

Haematologica, 2016

Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAAT-enhancer-binding protein α from hematopoietic cells in a family with AML.

Stelljes M et al.

Leukemia, 2011

A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloid leukemia with an additional somatic C-terminal C/EBPalpha mutation.

Nanri T et al.

Genes, Chromosomes & Cancer, 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

Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation.

Renneville A et al.

Leukemia, 2009

Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia.

Sellick GS et al.

Leukemia, 2005

Mutation of CEBPA in familial acute myeloid leukemia.

Smith ML et al.

The New England Journal of Medicine, 2004

Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA).

Preudhomme C et al.

Blood, 2002

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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."