Gene

DDX41

DEAD-box helicase 41

Explore in graph →CI-GENE-00043125HGNC:18674 ENSG00000183258 NCBI 51428 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (16)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–16 of 16 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
DDX41 G530D14
(oncogenic)	Myeloid Neoplasm	Oncogenic	B	Supports Oncogenicity	5	submitted	EID11435 The G530D variant was identified in 8 patients with myeloid neoplasm who had somatic status confirmed by buccal swab or sorted T-cells; germline variants included none in 3 patients (one of whom had a…

Cohorts

Alteration frequency by cohort (9)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved9 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Intrahepatic Cholangiocarcinoma (JHU, Nat Genet 2013) chol_jhu_2013	Cholangiocarcinoma	Ssm	2	40

Literature

Linked publications (1)

25 per page, newest first.

pubmedPublishedShowing 1–1 of 1 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
· Blood · 2016 · PMID 26712909 · validated civic_curation pubmed

DDX41 c.121C>T (p.Q41*) + DDX41 G530D1
(oncogenic)	Acute Myeloid LeukemiaCURATED_BROADER	Oncogenic	C	Supports Oncogenicity	1	submitted	EID10346 In a cohort of 5,801 patients with hematologic malignancies evaluated using next-generation sequencing (NGS)–based myeloid panels, 90 patients were identified with at least one DDX41 alteration at >40… (full text at CIViC) PMID 33585199 · Bannon et al., 2020 · Open in CIViC	civic

DDX41 c.121C>T (p.Q41*) + DDX41 G530D1

(oncogenic)

Acute Myeloid LeukemiaCURATED_BROADER

Oncogenic

Supports Oncogenicity

submitted

EID10346

In a cohort of 5,801 patients with hematologic malignancies evaluated using next-generation sequencing (NGS)–based myeloid panels, 90 patients were identified with at least one DDX41 alteration at >40… (full text at CIViC)

PMID 33585199 · Bannon et al., 2020 · Open in CIViC

civic

DDX41 R164W1
(predisposing)	Hematopoietic and Lymphoid Cell NeoplasmALIAS	Predisposing	C	Supports Predisposition	3	accepted	EID1887 Eight 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

DDX41 R164W1

(predisposing)

Hematopoietic and Lymphoid Cell NeoplasmALIAS

Predisposing

Supports Predisposition

accepted

EID1887

Eight 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