Article
Germline DNMT3A mutation in familial acute myeloid leukaemia.
Epigenetics - 1 May 2021
DiNardo Courtney D, Beird Hannah C, Estecio Marcos, Hardikar Swanand, Takahashi Koichi, Bannon Sarah A, Borthakur Gautam, Jabbour Elias, Gumbs Curtis, Khoury Joseph D, Routbort Mark, Gong Ting, Kondo Kimie, Kantarjian Hagop, Garcia-Manero Guillermo, Chen Taiping, Futreal P Andrew
Abstract excerpt
Acute myeloid leukaemia (AML) is a heterogeneous myeloid malignancy characterized by recurrent clonal events, including mutations in epigenetically relevant genes such as DNMT3A, ASXL1, IDH1/2, and TET2. Next-generation sequencing analysis of a mother and son pair who both developed adult-onset diploid AML identified a novel germline missense mutation DNMT3A p.P709S. The p.P709S protein-altering variant resides...
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