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Double mutant DNMT3A AML: a unique subtype experiencing increased DNA damage and poor prognosis

18 Dec 2024

Abstract excerpt

ABSTRACT: Mutation of DNMT3A, encoding a de novo methyltransferase essential for cytosine methylation, is a common early event in clonal hematopoiesis (CH) and adult acute myeloid leukemia (AML). Spontaneous deamination of methylated cytosines damages DNA, which is repaired by the base excision repair (BER) enzymes methyl-CpG binding domain 4 (MBD4) and thymine DNA glycosylase (TDG). Congenital MBD4 deficiency...

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PMID: 39693514
DOI: 10.1182/bloodadvances.2024014698

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