Article
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Blood - 25 Feb 2016
Lewinsohn Maya, Brown Anna L, Weinel Luke M, Phung Connie, Rafidi George, Lee Ming K, Schreiber Andreas W, Feng Jinghua, Babic Milena, Chong Chan-Eng, Lee Young, Yong Agnes, Suthers Graeme K, Poplawski Nicola, Altree Meryl, Phillips Kerry, Jaensch Louise, Fine Miriam, D'Andrea Richard J, Lewis Ian D, Medeiros Bruno C, Pollyea Daniel A, King Mary-Claire, Walsh Tom, Keel Siobán, Shimamura Akiko, Godley Lucy A, Hahn Christopher N, Churpek Jane E, Scott Hamish S
Abstract excerpt
Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML), suggesting that DDX41 acts as a tumor suppressor. To determine whether novel DDX41 mutations could be identified in families with additional types of hematologic malignancies, our group...
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