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Germline predisposition to clonal hematopoiesis
Abstract
We now recognize that with aging, hematopoietic stem and progenitor cells (HSPCs) acquire mutations that confer a fitness advantage and clonally expand in a process now termed clonal hematopoiesis (CH). Because CH predisposes to a variety of health problems, including cancers, cardiovascular diseases, and inflammatory conditions, there is intense interest in the inherited alleles associated with the development of CH. DNA variants near TERT, SMC4, KPNA4, IL12A, CD164, and ATM confer the strongest associations. In this review, we discuss our current state of knowledge regarding germline predisposition to CH.
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“Previous studies of common germline genetic drivers of CH have also identified gene-specific CH-predisposition loci24,49–51.”
From Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy (2025) · cites this paper as [51]
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Cited by
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Liu, J., Tran, D., Xue, L., Wiley, B. J., Vlasschaert, C., Watson, C. J., MacGregor, H. A. J., Zong, X., Chan, I. C. C., Das, I., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02250-x · Cited by 33
Self-citation
Metadata
- Authors
- Liu, J., Osman, A. E. G., Bolton, K., & Godley, L. A.
- Venue
- Leukemia Research
- Publisher
- Elsevier BV
- Published
- 2023-09
- Volume
- 132
- Pages
- 107344
- ISSN
- 0145-2126
- Cited by
- 7
- References
- 6
- Language
- en
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- Liu, J., Osman, A. E. G., Bolton, K., & Godley, L. A. (2023). Germline predisposition to clonal hematopoiesis. Leukemia Research. https://doi.org/10.1016/j.leukres.2023.107344