DNMT3A
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 al. 2013).
Related Pathways
Contributors: Scott Wheeler, Ph.D. (through June 2014), Adam Seegmiller, M.D., Ph.D., Cindy L. Vnencak-Jones, Ph.D.
Suggested Citation: Wheeler, S., A. Seegmiller, C. Vnencak-Jones. 2015. DNMT3A. My Cancer Genome https://www.mycancergenome.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.
Contributors: Scott Wheeler, Ph.D. (through June 2014), Adam Seegmiller, M.D., Ph.D., Cindy L. Vnencak-Jones, Ph.D.
Suggested Citation: Wheeler, S., A. Seegmiller, C. Vnencak-Jones. 2013. DNMT3A in Acute Myeloid Leukemia. My Cancer Genome https://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/dnmt3a/ (Updated September 9).
Last Updated: September 9, 2013
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