Quantitative detection of DNMT3A R882H mutation in acute myeloid leukemia

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Quantitative detection of DNMT3A R882H mutation in acute myeloid leukemia

BACKGROUND DNMT3A mutations represent one of the most frequent gene alterations detectable in acute myeloid leukemia (AML) with normal karyotype. Although various recurrent somatic mutations of DNMT3A have been described, the most common mutation is located at R882 in the methyltransferase domain of the gene. Because of their prognostic significance and high stability during disease evolution, ...

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Detection of R882 Mutations in DNMT3A Gene in Acute Myeloid Leukemia: A Method Comparison Study

Background: Somatic mutations in the hotspot region of the DNA-methyltransferase 3A (DNMT3A) gene were recurrently identified in acute myeloid leukemia (AML). It is believed that DNMT3A mutations confer an adverse prognosis for AML patients. These lines of evidence support the need for a rapid and cost-efficient method for the detection of these mutations. The present study aimed to establish h...

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DNMT3A Mutations in Acute Myeloid Leukemia

Timothy J. Ley, M.D., Li Ding, Ph.D., Matthew J. Walter, M.D., Michael D. McLellan, B.S., Tamara Lamprecht, B.S., David E. Larson, Ph.D., Cyriac Kandoth, Ph.D., Jacqueline E. Payton, M.D., Ph.D., Jack Baty, B.A., John Welch, M.D., Ph.D., Christopher C. Harris, B.S., Cheryl F. Lichti, Ph.D., R. Reid Townsend, M.D., Robert S. Fulton, M.S., David J. Dooling, Ph.D., Daniel C. Koboldt, M.S., Heather...

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Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations

We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML). More than 80% of patients had at least one mutation in the genes t...

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DNMT3A mutations in Chinese childhood acute myeloid leukemia

BACKGROUND DNA methyltransferase 3A (DNMT3A) mutations have been found in approximately 20% of adult acute myeloid leukemia (AML) patients and in 0% to 1.4% of children with AML, and the hotspots of mutations are mainly located in the catalytic methyltransferase domain, hereinto, mutation R882 accounts for 60%. Although the negative effect of DNMT3A on treatment outcome is well known, the progn...

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ژورنال

عنوان ژورنال: Journal of Experimental & Clinical Cancer Research

سال: 2015

ISSN: 1756-9966

DOI: 10.1186/s13046-015-0173-2