Impact of Germline CHEK2 Pathogenic Variants on the Risk of Acute Myeloid Leukemia and Myelodysplastic Syndrome

Given the emerging evidence linking CHEK2 to clonal hematopoiesis (CH), these results underscore the need for prospective studies to refine risk assessment, inform genetic counseling, and guide surveillance strategies. These results suggest that clinical guidelines may consider monitoring CH in CHEK2 carriers and weigh the risks and benefits when considering CHEK2 carriers as stem cell transplant donors.

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Publication Details

Journal
Cancer Epidemiology Biomarkers & Prevention
Published
2025-12-23
DOI
https://doi.org/10.1158/1055-9965.epi-25-1074
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
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article

Impact of Germline CHEK2 Pathogenic Variants on the Risk of Acute Myeloid Leukemia and Myelodysplastic Syndrome

Kevin F Foley, Nicola Long, Richard D. Press, Y. Li et al.
Cancer Epidemiology Biomarkers & Prevention
BRCA gene mutations in cancer
article

Impact of Germline CHEK2 Pathogenic Variants on the Risk of Acute Myeloid Leukemia and Myelodysplastic Syndrome

Kevin F Foley, Nicola Long, Richard D. Press, Y. Li, Ujwal Shinde, Jonathan C. Savage, J. Tyner, Jose M. Solis-Ruiz, Zhenzhen Zhang, Fei Yang, Anupriya Agarwal, Angela C. Holt
article en

Abstract

Given the emerging evidence linking CHEK2 to clonal hematopoiesis (CH), these results underscore the need for prospective studies to refine risk assessment, inform genetic counseling, and guide surveillance strategies. These results suggest that clinical guidelines may consider monitoring CH in CHEK2 carriers and weigh the risks and benefits when considering CHEK2 carriers as stem cell transplant donors.

Cancer Epidemiology Biomarkers & PreventionVol. 35(3)
Kaiser Permanente (US), Oregon Health & Science University (US), Oregon Zoo (US), Kaiser Permanente Center for Health Research (US), Education Northwest (US)
Good health and well-being
Openalex Percentile: Top 26%
BRCA gene mutations in cancer
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