ArticleAmerican journal of human genetics2017
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 153 papers, 3 of them syntheses that pooled it.
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Who cites it
153 citing papers in PubMed, 3 syntheses or guidelines pooled it, 262 citations in OpenAlex.
- The role of clonal progression leading to the development of therapy-related myeloid neoplasms.Annals of hematology · 2024Pooled it
- Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays.Annals of laboratory medicine · 2024Guideline
- Association of clonal hematopoiesis mutations with clinical outcomes: A systematic review and meta-analysis.American journal of hematology · 2022Pooled it
- Clonal Hematopoiesis and Cardiovascular Disease and Bleeding Risk and the Effectiveness of Aspirin.JAMA cardiology · 2025Trial
- Trial
- High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.Nature medicine · 2019Trial
- Large-scale whole-genome sequencing reveals the landscape and health implications of de novo mutations.Nature medicine · 2026Article
- Clonal Dynamics After Allogeneic Hematopoietic Stem Cell Transplantation from Related Donors: A Case Series.International journal of molecular sciences · 2026Article
- Clonal Hematopoiesis in Colorectal Cancer: Mechanisms and Implications.Cancer medicine · 2026Review
- Article
- Aging of hematopoietic stem cells is inconsequential to progenitor cell function.Stem cell reports · 2026Article
- Clonal haematopoiesis and cardiovascular disease, defining risk, filling gaps, and framing the future.NPJ cardiovascular health · 2026Review
- Clonal hematopoiesis in patients with cancer and cancer survivors: From clonal burden to cardiovascular diseases.Cancer · 2026Review
- Clinical decisions in clonal hematopoiesis: a contemporary review for clinicians.Haematologica · 2026Review
- DNMT3A in cancer: from epigenetic writer to oncogenic driver.Clinical epigenetics · 2026Review
- Metabolite-induced DNA damage drives stochastic stem cell loss and clonal hematopoiesis.Cell stem cell · 2026Article
- Clonal Hematopoiesis of Indeterminate Potential and Cardiovascular Mortality in Patients with ESKD: A Pilot Case-Control Study.Clinical journal of the American Society of Nephrology : CJASN · 2026Article
- Clonal Hematopoiesis of Indeterminate Potential in Cardiovascular Disease: Gene-Specific Mechanisms and Therapeutic Implications.International journal of general medicine · 2026Review
- Clonal Hematopoiesis of Indeterminate Potential Influences Breast Cancer Outcomes in a Genotype-Specific Manner.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Association of high-dose radioactive iodine therapy with PPM1D-mutated clonal hematopoiesis in older individuals.Molecular oncology · 2025Article
93 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clonal hematopoiesis results from somatic mutations in hematopoietic stem cells, which give an advantage to mutant cells, driving their clonal expansion and potentially leading to leukemia. The acquisition of clonal hematopoiesis-driver mutations (CHDMs) occurs with normal aging and these mutations have been detected in more than 10% of individuals ≥65 years. We aimed to examine the prevalence and characteristics of CHDMs throughout adult life. We developed a targeted re-sequencing assay combining high-throughput with ultra-high sensitivity based on single-molecule molecular inversion probes (smMIPs). Using smMIPs, we screened more than 100 loci for CHDMs in more than 2,000 blood DNA samples from population controls between 20 and 69 years of age. Loci screened included 40 regions known to drive clonal hematopoiesis when mutated and 64 novel candidate loci. We identified 224 somatic mutations throughout our cohort, of which 216 were coding mutations in known driver genes (DNMT3A, JAK2, GNAS, TET2, and ASXL1), including 196 point mutations and 20 indels. Our assay's improved sensitivity allowed us to detect mutations with variant allele frequencies as low as 0.001. CHDMs were identified in more than 20% of individuals 60 to 69 years of age and in 3% of individuals 20 to 29 years of age, approximately double the previously reported prevalence despite screening a limited set of loci. Our findings support the occurrence of clonal hematopoiesis-associated mutations as a widespread mechanism linked with aging, suggesting that mosaicism as a result of clonal evolution of cells harboring somatic mutations is a universal mechanism occurring at all ages in healthy humans.
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