Publication
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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Linked entities
Linked entities (3)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 3
- cancerHematopoietic and Lymphoid Cell Neoplasmcivic_curation1.00
- geneDDX41civic_curation1.00
- variantDDX41 R164Wcivic_curation1.00
Curated evidence
Evidence citing this paper (2)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 26712909
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| DDX41 G530D1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | B | Supports Predisposition | 4 | submitted | EID10339DDX41 p.G530D (NM_016222.2) was detected in the germline of 5 family members. Family H's pedigree can be seen in Fig. 1H - which includes: 1) III.6 (proband) was diagnosed with AML at 50 (CBC paramete… (full text at CIViC) PMID 26712909 · Lewinsohn et al., 2016 · Open in CIViC | civic |
| DDX41 R164W1 | ||||||||
| (predisposing) | Hematopoietic and Lymphoid Cell NeoplasmALIAS | Predisposing | C | Supports Predisposition | 3 | accepted | EID1887Eight members of larger pedigree spanning four generations with inherited hematological cancers were sequenced with whole exome sequencing or sanger sequencing of DDX41 exons 5 and 6. A mutation c.490… (full text at CIViC) PMID 26712909 · Lewinsohn et al., 2016 · Open in CIViC | civic |