The DNA (cytosine-5-)-methyltransferase 3
alpha (DNMT3A) gene encodes a protein involved in epigenetic gene
regulation (Gene 2013;
Li et al. 2007).
DNMT3A is most frequently mutated in hematologic malignancies such as acute myeloid leukemia
and myelodysplastic syndromes, but it has also been observed in other cancers, including
lung cancer (Kim et
Suggested Citation: Wheeler, S., A. Seegmiller, C. Vnencak-Jones. 2015. DNMT3A.
My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/dnmt3a/?tab=0
(Updated December 4).
Last Updated: December 4, 2015
DNMT3A in Acute Myeloid Leukemia
DNMT3A mutations occur in 17.1% of AML (COSMIC).
DNMT3A mutations most often occur at the R882 residue of the protein, and they are believed to
cause loss of function (Shih
et al. 2012). DNMT3A mutations fall outside the “two-hit” theory of
leukemogenesis as it was originally conceived. Some have proposed categorizing DNMT3A mutations
into a new class of mutations; members of the new class—class III—would be defined
as mutations occurring in epigenetic modifiers (Naoe and Kiyoi
2013; Shih et al.
2012). Similar to IDH1 and IDH2 mutations, DNMT3A mutations affect DNA methylation and
as such, play a role in cancer development through deregulation of gene expression.
Suggested Citation: Wheeler, S., A. Seegmiller, C. Vnencak-Jones. 2013. DNMT3A
in Acute Myeloid Leukemia. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/dnmt3a/
(Updated September 9).
Last Updated: September 9, 2013
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