Impact of Germline CHEK2 Pathogenic Variants on the Risk of Acute Myeloid Leukemia and Myelodysplastic Syndrome

Given the emerging evidence linking CHEK2 to clonal hematopoiesis (CH), these results underscore the need for prospective studies to refine risk assessment, inform genetic counseling, and guide surveillance strategies. These results suggest that clinical guidelines may consider monitoring CH in CHEK2 carriers and weigh the risks and benefits when considering CHEK2 carriers as stem cell transplant donors.