Article
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Blood advances - 24 Mar 2020
Brown Anna L, Arts Peer, Carmichael Catherine L, Babic Milena, Dobbins Julia, Chong Chan-Eng, Schreiber Andreas W, Feng Jinghua, Phillips Kerry, Wang Paul P S, Ha Thuong, Homan Claire C, King-Smith Sarah L, Rawlings Lesley, Vakulin Cassandra, Dubowsky Andrew, Burdett Jessica, Moore Sarah, McKavanagh Grace, Henry Denae, Wells Amanda, Mercorella Belinda, Nicola Mario, Suttle Jeffrey, Wilkins Ella, Li Xiao-Chun, Michaud Joelle, Brautigan Peter, Cannon Ping, Altree Meryl, Jaensch Louise, Fine Miriam, Butcher Carolyn, D'Andrea Richard J, Lewis Ian D, Hiwase Devendra K, Papaemmanuil Elli, Horwitz Marshall S, Natsoulis Georges, Rienhoff Hugh Y, Patton Nigel, Mapp Sally, Susman Rachel, Morgan Susan, Cooney Julian, Currie Mark, Popat Uday, Bochtler Tilmann, Izraeli Shai, Bradstock Kenneth, Godley Lucy A, Krämer Alwin, Fröhling Stefan, Wei Andrew H, Forsyth Cecily, Mar Fan Helen, Poplawski Nicola K, Hahn Christopher N, Scott Hamish S
Abstract excerpt
First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations detected in 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families detected 2 partial gene deletions, 3 novel mutations, and 5 recurrent...
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