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62 Possible Causes for Mutation in the DNMT3A Gene

  • Aplastic Anemia

    BCOR and BCORL1 genes or mutations in the DNMT3A and ASXL1 genes, among a few others.[] In about a third of patients with aplastic anemia, stem cell "clones" appear with mutations in a few specific genes (DNMT3A and ASXL1), genes previously identified as mutated[] Three of the five patients who had a loss of chromosome 7 did not have somatic mutations that were detectable in candidate genes that are recurrently mutated in the myelodysplastic[]

  • Leukemia

    Targeted sequencing of a limited number of genes can detect mutations in 80% to 90% of MDS patients; the most commonly mutated genes in MDS are SF3B1, TET2, SRSF2, ASXL1,[] DNMT3A, RUNX1, U2AF1, TP53, and EZH2. 59, 60 Importantly, acquired clonal mutations identical to those seen in MDS can occur in the hematopoietic cells of apparently healthy[] As with all the other myeloid neoplasms, a large amount of data has recently become available on recurring mutations in MDS.[]

  • B-Cell Chronic Lymphocytic Leukemia

    However, the exact mechanism by which DNMT3A may affect gene expression is still unknown [51].[] Indeed, although a study has reported that DNMT3A mutation results in a loss of DNA methylation activity of 50% [52], an in vitro assay has demonstrated that patients with[] The presence of these mutations in AML patients is likely to imply that aberrant epigenetic regulation is critical for pathogenesis.[]

  • Myelodysplasia

    Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia . Nature Genet. 43 , 309–315 (2011) 16. Puente, X.[] Acquired mutations of certain genes, like TET2 and DNMT3A, can be found in patients with diagnoses other than MDS, including lymphoid disorders. 71, 85 Mutations of these[] Only 4 to 6 genes are consistently mutated in 10% MDS patients, whereas a long tail of 50 genes are mutated less frequently.[]

  • Refractory Anemia

    We analyzed clinical and laboratory variables in 82 patients and applied a 27-gene NGS assay to 48 marrow samples obtained at diagnosis. 94% of patients had 1 mutations; common[] […] mutations being: SF3B1 85%, JAK2V617F 33%, ASXL1 29%, DNMT3A 13%, SETBP1 13% and TET2 10%.[]

  • Acute Myelocytic Leukemia

    Mutations in the DNMT3a and TET2 genes have been linked to increased sensitivity to hypomethylating agents. 12,13 Identification of oncogenic alterations in the isocitrate[] The majority of the variants occurred in three genes: DNMT3A, TET2, and ASXL1.[] The most commonly mutated gene was DNMT3A (403 variants) ( Figure 2A, and Fig.[]

  • Myeloproliferative Disease

    Several additional novel mutations in genes involved in epigenetic regulation of the genome, including TET2, ASXL1, DNMT3A, and IDH1/2, have emerged, in addition to several[] Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood. 2011;118:3932–41.[] mutations in cellular splicing machinery.[]

  • Chronic Lymphocytic Leukemia

    The most frequently mutated genes among the study participants were ATM (15 percent), SF3B1 (12 percent), NOTCH1 (9 percent), DNMT3A (5 percent), and TP53 (9 percent).[] However, the exact mechanism by which DNMT3A may affect gene expression is still unknown [51].[] The presence of a pathogenic mutation -- 19 in total -- also predicted worse progression free survival in the patients receiving CIT compared to those without a pathogenic[]

  • Primary Myelofibrosis

    Contrarily, DNA methylation genes (DNMT3A, IDH1, IDH2 and TET2) were mutated most often in PV (0·5) and less frequently in ET (0·23) and PMF (0·20), but without reaching statistical[] Additionally, chromatin modification genes (ASXL1 and EZH2) were frequently mutated in PMF patients (0·50) and, to a significantly lesser extent, in ET (0·13) and PV (0·07[]

  • Acute Panmyelosis with Myelofibrosis

    The IDH genes and DNMT3A are relevant examples of this phenomenon.[] In contrast, some mutations, such as DNMT3A, NPM1, and FLT3, exhibit a strong tendency to co-occur.[] Very often, studies exhibit contradictory results regarding the prognostic significance of individual genes.[]

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