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Article

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.

Leukemia - 1 Feb 2025

Hendricks Rachel M, Kim Jung, Haley Jeremy S, Ramos Mark Louie, Mirshahi Uyenlinh L, Carey David J, Stewart Douglas R, McReynolds Lisa J

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39501104
DOI: 10.1038/s41375-024-02436-y
PMCID: PMC11794151

Genes

DDX41
ETV6
GATA2
MECOM
RUNX1
SRP72

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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