ArticleLeukemia2025
Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.
Article in Leukemia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed.
- Democratizing cancer risk testing in children before alloHCT.Blood advances · 2026Article
- Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.The Korean journal of internal medicine · 2026Review
- A patient with myelodysplastic/myeloproliferative neoplasm with neutrophilia (MDS/MPN-N) harboring aFrontiers in oncology · 2026Article
- Impact of germline predisposition genes to hematologic malignancies on transplant outcomes and donor selection.Frontiers in immunology · 2026Article
- Insights in bone marrow failure syndromes: take home messages from the 3rd ESH-EBMT-EHA-IPIG translational research conference.Bone marrow transplantation · 2025Article
- Novel polygenic risk score associates with diverticulitis in a multi-institutional, ancestrally diverse cohort.Scientific reports · 2025Article
- Clinical and Molecular Spectrum ofJournal of clinical medicine · 2025Article
- Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management.Current oncology reports · 2025Review
- Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.British journal of haematology · 2025Article
Corrections and comments
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Authors and funding
8 authors.
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Abstract
It is estimated that 10% of individuals with a myeloid malignancy carry a germline susceptibility. Using the genome-first approach, in which individuals were ascertained on genotype alone, rather than clinical phenotype, we quantified the prevalence and penetrance of pathogenic germline variants in eight myeloid malignancy predisposition (gMMP) genes. ANKRD26, CEBPA, DDX41, MECOM, SRP72, ETV6, RUNX1 and GATA2, were analyzed from the Geisinger MyCode DiscovEHR (n = 170,503) and the United Kingdom Biobank (UKBB, n = 469,595). We identified a high risk of myeloid malignancies (MM) (odds ratio[OR] all genes: DiscovEHR, 4.6 [95% confidential interval (CI) 2.1-9.7], p < 0.0001; UKBB, 6.0 [95% CI 4.3-8.2], p = 3.1 × 10
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.