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Article

Impact of Germline DNA Repair Mutations on Clonal Hematopoiesis and Myeloid Neoplasm Development.

Current hematologic malignancy reports - 29 Dec 2025

Fedorov Kateryna, Luo Leo Y, Bick Alexander G, Savona Michael R

Abstract excerpt

PURPOSE OF REVIEW: Clonal hematopoiesis (CH) arises from the expansion of a single hematopoietic stem cell harboring somatic mutations that confer growth advantage. Recent studies highlight a substantial heritable component to CH, implicating germline mutations in DNA damage repair (DDR) genes. These genes are essential for maintaining genomic integrity and pathogenic variants in key DDR genes are...

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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: 41457124
DOI: 10.1007/s11899-025-00768-9
PMCID: PMC12745311

Genes

ATM
BRCA1
CHEK2
PARP1
PPM1D
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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