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Article

Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants.

British journal of haematology - 1 May 2026

George Andrew, Rolf Elisabeth, Domeradzka Monika, Ribeiro Sara, Mills Brittany, Hallett April, Macmahon Suzanne, Proszek Paula, Shaikh Ridwan, Yuan Lina, Hubank Michael, Petrizan Mikel Valganon, McVeigh Terri P, Khorashad Jamshid S

Abstract excerpt

Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies at a single centre within a 4-year period identified 136 unique DDX41...

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Identifiers

PMID: 41873058
DOI: 10.1111/bjh.70411
PMCID: PMC13176513

Genes

DDX41

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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