Article
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Leukemia - 1 Jul 2025
Stubbins Ryan J, Arnovitz Stephen, Vagher Jennie, Asom Anase, Perpich Melody, Pies Madeline, Akpan Imo J, Chew Edward, Bridgers Joshua, Karsan Aly, Rodgers Courtnee, Koppayi Ashwin, Basdag Hatice, Drazer Michael W, Das Soma, Cheng Jason, Osman Afaf E G, Godley Lucy A
Abstract excerpt
The role of germline CHEK2 variants in hematopoietic malignancies (HMs) is poorly understood. We examined pathogenic/likely pathogenic (P/LP) CHEK2 variants in patients with hereditary HMs (HHMs), a solid tumor risk cohort, public datasets, and a knock-in mouse model. In the HHM cohort, 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid...
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