Article
Overall cancer risk in people with deleterious germline DDX41 variants.
Haematologica - 1 Sept 2025
Korotev Sophia C, Cheng Jason X, Haribabu Yogameenakshi, Strauss Joshua, Dominguez Salina, Koppayi Ashwin, Perpich Melody, Pies Madeline, Moma Luke, Kim Aelin, Basdag Hatice, Rodgers Courtnee, Kosuri Satyajit, Saiki Ryunosuke, Makishima Hideki, Tawde Sanjukta, Galasinski Shelly, Kandikatla Priscilla, Subramanian Hari Prasanna, Ren Kehan, Bi Honghao, Mohammadhosseini Mona, Ogawa Seishi, Ji Peng, Agarwal Anupriya, Das Soma, Godley Lucy A
Abstract excerpt
Germline loss-of-function (LoF) DDX41 variants predispose to late-onset hematopoietic malignancies (HM), predominantly of myeloid lineage. Among 43 families with germline DDX41LoF variants, bone marrow (BM) biopsies in those without (N=8) or with malignancies (N=21) revealed mild dysplasia in peripheral blood (57%) and BM (88%), long before the average age of DDX41-related HM onset. Therefore, we recommend...
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