My Cancer Genome: Genetically Informed Cancer Medicine

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  • CALR
    • CALR c.1154_1155insTTGTC (K385fs*47)
    • CALR c.1099_1150del (L367fs*46)
  • CBFB-MYH11
    • CBFB-MYH11 Inversion
    • CBFB-MYH11 Translocation
  • CEBPA
    • CEBPA Biallelic Mutation
  • DEK-NUP214
    • DEK-NUP214 Fusion
  • DNMT3A
    • DNMT3A c.2644C>T (R882C)
    • DNMT3A c.2644C>G (R882G)
    • DNMT3A c.2644C>A (R882S)
    • DNMT3A c.2645G>A (R882H)
    • DNMT3A c.2645G>T (R882L)
    • DNMT3A c.2645G>C (R882P)
  • FLT3
    • FLT3 ITD
    • FLT3 c.2503G>C (D835H)
    • FLT3 c.2503G>A (D835N)
    • FLT3 c.2503G>T (D835Y)
    • FLT3 c.2504A>C (D835A)
    • FLT3 c.2504A>T (D835V)
    • FLT3 c.2505T>A (D835E)
    • FLT3 c.2505T>G (D835E)
    • FLT3 c.2506A>T (I836F)
    • FLT3 c.2506A>C (I836L)
    • FLT3 c.2506A>G (I836V)
    • FLT3 c.2506_2507delATinsGA (I836D)
    • FLT3 c.2506_2507delATinsCA (I836H)
    • FLT3 c.2508C>G (I836M)
  • IDH1
    • IDH1 c.394C>T (R132C)
    • IDH1 c.394C>G (R132G)
    • IDH1 c.394C>A (R132S)
    • IDH1 c.395G>A (R132H)
    • IDH1 c.395G>T (R132L)
    • IDH1 c.395G>C (R132P)
  • IDH2
    • IDH2 c.418C>G (R140G)
    • IDH2 c.418C>T (R140W)
    • IDH2 c.419G>T (R140L)
    • IDH2 c.419G>A (R140Q)
    • IDH2 c.515G>A (R172K)
    • IDH2 c.515G>T (R172M)
    • IDH2 c.516G>C (R172S)
  • KIT
    • KIT Exon 8 Mutation
    • KIT c.2446G>C (D816H)
    • KIT c.2446G>T (D816Y)
    • KIT c.2446_2447delGAinsAT (D816I)
    • KIT c.2447A>T (D816V)
  • MLL-MLLT3
    • MLL-MLLT3 Fusion
  • NPM1
    • NPM1 Exon 12 Mutations
  • PML-RARA
    • PML-RARA Fusion
  • RBM15-MKL1
    • RBM15-MKL1 Fusion
  • RPN1-EVI1
    • RPN1-EVI1 Inversion
    • RPN1-EVI1 Translocation
  • RUNX1-RUNX1T1
    • RUNX1-RUNX1T1 Fusion
  • TET2
    • TET2 Mutations
  • Other Diseases
    • Acute Lymphoblastic Leukemia
    • Anaplastic Large Cell Lymphoma
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  • What is DNMT3A?
  • DNMT3A in Acute Myeloid Leukemia
  • Clinical Trials

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

  • Chromatin remodeling/DNA methylation
​

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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Disclaimer: The information presented at MyCancerGenome.org is compiled from sources believed to be reliable. Extensive efforts have been made to make this information as accurate and as up-to-date as possible. However, the accuracy and completeness of this information cannot be guaranteed. Despite our best efforts, this information may contain typographical errors and omissions. The contents are to be used only as a guide, and health care providers should employ sound clinical judgment in interpreting this information for individual patient care.

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