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Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms

18 May 2023

Abstract excerpt

The diagnosis of germline predisposition to myeloid neoplasms (MN) secondary to DDX41 variants is currently hindered by the long latency period, variable family histories and the frequent occurrence of DDX41 variants of uncertain significance (VUS). We reviewed 4,524 consecutive patients who underwent targeted sequencing for suspected or known MN and analyzed the clinical impact and relevance of DDX41VUS in...

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PMID: 37199125
DOI: 10.3324/haematol.2023.282867

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