DDX-41 Mutations in AML and MDS: A Case Study

Germline mutations in the DDX-41 gene are found in 2-5% of patients with AML and MDS. The risk of developing a myeloid neoplasm was negligible up to age 40, but rapidly increased to 49% by 90 years of age. Pathogenic or likely pathogenic variants accounted for approximately 80% of known germline predisposition to myeloidNeoplasms in adults. These risk variants were 10 times more enriched in Japanese patients compared to the general population.