Abstract 5164: Deleterious germline DDX41 variants drive solid tumors in conjunction with second cancer risk alleles and a pro-inflammatory environment
Sign Up to like & getrecommendations! Published in 2025 at "Cancer Research"
DOI: 10.1158/1538-7445.am2025-5164
Abstract: The presence of solid tumors in those with deleterious germline DDX41 variants in addition to the expected myeloid malignancies suggests that these alleles could contribute to solid tumor development. To test if DDX41 cancer risk… read more here.
Keywords: cancer; solid tumors; ddx41; ddx41 variants ... See more keywords
Hematologic neoplasms with germline DDX41 variants: Experience from nine spanish centers.
Sign Up to like & getrecommendations! Published in 2025 at "Blood"
DOI: 10.1182/blood-2025-6744
Abstract: Introduction: Neoplasms with germline variants in DDX41 constitute the most frequent hematologic neoplasm (HN) with a germline predisposition. Their clinical peculiarity and the region-specific distribution of variants necessitate a systematic description within distinct geographic contexts.… read more here.
Keywords: germline; history; ddx41; ddx41 variants ... See more keywords
Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.
Sign Up to like & getrecommendations! Published in 2023 at "Haematologica"
DOI: 10.3324/haematol.2023.282867
Abstract: 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).… read more here.
Keywords: ddx41; ddx41 variants; myeloid neoplasms; germline ddx41 ... See more keywords
Overall cancer risk in people with deleterious germline DDX41 variants
Sign Up to like & getrecommendations! Published in 2025 at "Haematologica"
DOI: 10.3324/haematol.2024.286887
Abstract: Germline loss-of-function (LoF) DDX41 variants predispose to late-onset hematopoietic malignancies (HM), predominantly of myeloid lineage. Among 43 families with germline DDX41LoF variants, bone marrow (BM) biopsies in those without (N=8) or with malignancies (N=21) revealed… read more here.
Keywords: cancer; ddx41; germline ddx41lof; ddx41 variants ... See more keywords