DDX41
Overview
DDX41 (DEAD-Box Helicase 41) encodes an RNA helicase involved in pre-mRNA splicing and innate immune sensing of cytosolic DNA. Germline DDX41 mutations are the most common predisposition to adult-onset myeloid malignancies (MDS/AML). In sinonasal adenoid cystic carcinoma (AdCC), a suspected germline DDX41 nonsense variant was identified.
Alterations observed in the corpus
- Single nonsense mutation p.Gln41Ter identified in sinonasal AdCC (1/21 sequenced cases); flagged as suspected germline based on allele fraction but not validated against matched normal tissue; tumor-only sequencing (TruSight Oncology 500) limits somatic vs. germline determination PMID:24418857
Cancer types (linked)
- Adenoid cystic carcinoma of the sinonasal tract: suspected germline DDX41 variant (p.Gln41Ter) in 1/21 sequenced cases; clinical significance and whether this represents a cancer predisposition germline event is unconfirmed PMID:24418857
Co-occurrence and mutual exclusivity
- No co-occurrence patterns reported; observed as a singleton event in a cohort of sinonasal AdCC PMID:24418857
Therapeutic relevance
- No targeted therapy data for DDX41-mutant AdCC. DDX41 nonsense mutations are well-characterized predisposition alleles in myeloid malignancies but their role in solid tumors is not established PMID:24418857
Open questions
- Whether this DDX41 p.Gln41Ter variant represents a germline cancer predisposition event requires confirmation by germline sequencing; functional consequences in AdCC biology are unknown PMID:24418857
Sources
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