Age-related clonal hematopoiesis associated with adverse outcomes
Open accessAbstract
BACKGROUND: The incidence of hematologic cancers increases with age. These cancers are associated with recurrent somatic mutations in specific genes. We hypothesized that such mutations would be detectable in the blood of some persons who are not known to have hematologic disorders. METHODS: We analyzed whole-exome sequencing data from DNA in the peripheral-blood cells of 17,182 persons who were unselected for hematologic phenotypes. We looked for somatic mutations by identifying previously characterized single-nucleotide variants and small insertions or deletions in 160 genes that are recurrently mutated in hematologic cancers. The presence of mutations was analyzed for an association with hematologic phenotypes, survival, and cardiovascular events. RESULTS: Detectable somatic mutations were rare in persons younger than 40 years of age but rose appreciably in frequency with age. Among persons 70 to 79 years of age, 80 to 89 years of age, and 90 to 108 years of age, these clonal mutations were observed in 9.5% (219 of 2300 persons), 11.7% (37 of 317), and 18.4% (19 of 103), respectively. The majority of the variants occurred in three genes: DNMT3A, TET2, and ASXL1. The presence of a somatic mutation was associated with an increase in the risk of hematologic cancer (hazard ratio, 11.1; 95% confidence interval [CI], 3.9 to 32.6), an increase in all-cause mortality (hazard ratio, 1.4; 95% CI, 1.1 to 1.8), and increases in the risks of incident coronary heart disease (hazard ratio, 2.0; 95% CI, 1.2 to 3.4) and ischemic stroke (hazard ratio, 2.6; 95% CI, 1.4 to 4.8). CONCLUSIONS: Age-related clonal hematopoiesis is a common condition that is associated with increases in the risk of hematologic cancer and in all-cause mortality, with the latter possibly due to an increased risk of cardiovascular disease. (Funded by the National Institutes of Health and others.).
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Mutations in DNMT3A and TET2 account for over 90% of CH cases.
“Mutations in DNMT3A and TET2 account for over 90% of CH cases2,6”
From TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice (2025) · cites this paper as [2]
The Results (Identification of Candidate Somatic Mutations; Increase in the Frequency of Clonal Somatic Mutations with Age, page unavailable) report 746 people with detectable mutations, including 403 DNMT3A variants and 72 TET2 variants. Even if each of those 475 variants occurred in a different person, they would account for at most about 64% of the detected cases, not over 90%. The paper notes that TET2 mutations were probably underrepresented because capture covered only part of the gene. (LLM, conf=0.88)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredCHIP is associated with increased all-cause mortality and a broad spectrum of non-malignant diseases, most prominently atherosclerotic cardiovascular disease and stroke.
“CHIP has emerged as a clinically relevant state associated with increased all-cause mortality and a broad spectrum of non-malignant diseases, most prominently atherosclerotic cardiovascular disease and stroke [1,4,5].”
From Clonal Hematopoiesis of Indeterminate Potential as an Emerging Interdisciplinary Risk Factor in Alzheimer’s Disease: Current Evidence and Future Directions (2026) · cites this paper as [1]
The Results sections on overall survival and cardiometabolic disease report increased all-cause mortality and associations with incident coronary heart disease, ischemic stroke, and type 2 diabetes. These support the named outcomes, but the paper does not establish the broader claim of a spectrum of non-malignant diseases beyond those cardiometabolic conditions. (LLM, conf=0.82)
Experimental — accuracy not yet measuredCHIP carriers have increased risk of all-cause mortality, largely due to cardiovascular disease and stroke.
“CHIP carriers have an about 13-fold increased risk of developing myeloid hematological malignancies and an increased risk of all-cause mortality, largely due to cardiovascular disease and stroke.1, 2, 3, 4”
From Aging drives <i>Tet2</i> <i>+/−</i> clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [2]
The Results section on overall survival reports increased all-cause mortality and a higher risk of cardiovascular death among people with mutations. The cardiometabolic Results section reports increased incidence of ischemic stroke, but the Discussion says the excess mortality *may* be related to coronary heart disease and stroke. The paper does not establish that mortality was largely due to those conditions or identify stroke as a major cause of death. (LLM, conf=0.88)
Experimental — accuracy not yet measuredCHIP carriers have about a 13-fold increased risk of developing myeloid hematological malignancies.
“CHIP carriers have an about 13-fold increased risk of developing myeloid hematological malignancies and an increased risk of all-cause mortality, largely due to cardiovascular disease and stroke.1, 2, 3, 4”
From Aging drives <i>Tet2</i> <i>+/−</i> clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [2]
The Results section (“Association of Somatic Mutations with the Risk of Hematologic Cancer”; page not provided) reports an 11.1-fold higher risk in people with detectable mutations. It does not report a 13-fold estimate specifically for myeloid malignancies; its estimate covers hematologic cancers more broadly. (LLM, conf=0.88)
Experimental — accuracy not yet measuredProgression to hematological malignancies depends on the type and complexity of mutations in CHIP.
“Furthermore, progression to hematological malignancies depends on the type and complexity of mutations in CHIP.2,5,6”
From Aging drives <i>Tet2</i> <i>+/−</i> clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [2]
The Results sections on mutation frequency and hematologic-cancer risk report that clonal hematopoiesis usually involved one detected mutation, whereas hematologic cancers often have multiple driver mutations; they also link detectable mutations to higher cancer risk. The paper does not establish that progression depends on mutation type or complexity: its reported risk comparisons concern mutation presence and variant allele fraction, and it could not assess whether later tumors arose from the preceding mutant clones. Page numbers were not available in our copy. (LLM, conf=0.84)
Experimental — accuracy not yet measured
Loss-of-function heterozygous mutations in DNMT3A account for about 50% to 60% of mutations found in CHIP carriers.
“Loss-of-function heterozygous mutations in epigenetic regulators DNMT3A (cytosine methyltransferase) and TET2 (methylcytosine dioxygenase) are the most frequently detected mutations in CHIP, accounting for about 50% to 60% and 10% to 30% of mutations found in CHIP carriers, respectively.1, 2, 3,7,8”
From Aging drives <i>Tet2</i> <i>+/−</i> clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [2]
The Results (Identification of Candidate Somatic Mutations; Increase in the Frequency of Clonal Somatic Mutations with Age; page unavailable) report 403 DNMT3A variants among 805 mutations, or about 50%, and identify DNMT3A as the most commonly mutated gene. Our copy does not establish that those DNMT3A mutations were heterozygous loss-of-function mutations, so it does not support that qualification of the percentage. (LLM, conf=0.88)
Experimental — accuracy not yet measuredLoss-of-function heterozygous mutations in TET2 account for about 10% to 30% of mutations found in CHIP carriers.
“Loss-of-function heterozygous mutations in epigenetic regulators DNMT3A (cytosine methyltransferase) and TET2 (methylcytosine dioxygenase) are the most frequently detected mutations in CHIP, accounting for about 50% to 60% and 10% to 30% of mutations found in CHIP carriers, respectively.1, 2, 3,7,8”
From Aging drives <i>Tet2</i> <i>+/−</i> clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [2]
The Results section reports 72 TET2 variants among 805 detected mutations—about 9%—and cautions that TET2 mutations were probably undercounted because only about half the coding region was captured. It supports TET2 as a frequently mutated gene in clonal hematopoiesis, but does not establish a 10%–30% share or identify those variants collectively as heterozygous loss-of-function mutations. The indexed copy provides no page numbers for these passages. (LLM, conf=0.86)
Experimental — accuracy not yet measuredAdvanced age is the best predictor of CHIP, with a 5.6% prevalence in the sixth decade and 18.4% in the ninth decade of life.
“More important, advanced age is the best predictor of CHIP, with a 5.6% or 18.4% prevalence in the sixth or ninth decade of life, respectively.2”
From Aging drives <i>Tet2</i> <i>+/−</i> clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [2]
The Results section, “Increase in the Frequency of Clonal Somatic Mutations with Age” (page not provided), reports that mutations become more frequent with age and gives the cited percentages. But 5.6% applies to ages 60–69 and 18.4% to ages 90 and older—not the sixth and ninth decades of life, respectively. The passage also does not establish that age is the best predictor relative to other factors. (LLM, conf=0.88)
Experimental — accuracy not yet measuredTET2 heterozygous loss-of-function mutations are predicted to have high expansion rates (10% increase in mean VAF per year).
“are predicted to have high expansion rates (10% increase in mean VAF per year1, 2, 3,7)”
From Aging drives <i>Tet2</i> <i>+/−</i> clonal hematopoiesis via IL-1 signaling (2023) · cites this paper as [2]
The Discussion (page unavailable) reports that TET2 loss-of-function cells have a competitive advantage in mouse models. The Results section on persistence over time (page unavailable) reports increases in variant allele fraction for some mutations, but gives no TET2-specific expansion rate. Neither passage supports the predicted 10% increase in mean VAF per year for heterozygous TET2 loss-of-function mutations. (LLM, conf=0.85)
Experimental — accuracy not yet measuredClone size, approximated by variant allele fraction, has previously been shown to be an important predictor of risk for blood cancer and cardiovascular outcomes.
“Clone size, which is approximated by the variant allele fraction (VAF), has previously been shown to be an important predictor of risk for blood cancer1,17 and cardiovascular outcomes8,9.”
From Clonal hematopoiesis is associated with protection from Alzheimer’s disease (2023) · cites this paper as [1]
Clonal hematopoiesis has been associated with increased mortality and morbidity.
“Despite its hematologically silent nature, CH has been associated with increased mortality and morbidity [1,32].”
From Clonal hematopoiesis and inflammation – the perpetual cycle (2023) · cites this paper as [1]
Increased red cell distribution width (RDW) has been reported in humans with CH.
“although increased red cell distribution width (RDW) has been reported (Jaiswal et al., 2014).”
From Chronic infection drives Dnmt3a-loss-of-function clonal hematopoiesis via IFNγ signaling (2021) · cites this paper as Jaiswal et al., 2014
Clonal hematopoiesis is associated with increased risk of cardiovascular events and blood cancers.
“This state of abnormal HSC expansion without overt hematologic disease is known as clonal hematopoiesis (CH), and is associated with increased risk of cardiovascular events and blood cancers (3)(4)(5).”
From <i>Txnip</i> Enhances Fitness of <i>Dnmt3a</i> -Mutant Hematopoietic Stem Cells via <i>p21</i> (2022) · cites this paper as [3]
Flow cytometry methods adhered to published guidelines.
“Methods adhered to published guidelines 77 .”
From Clonal hematopoiesis-associated motoric deficits caused by monocyte-derived microglia accumulating in aging mice (2025) · cites this paper as [77]
The Methods section describes whole-exome and targeted amplicon sequencing, not flow cytometry. Searches for flow cytometry and published guidelines found no passage in our copy addressing whether flow-cytometry methods adhered to guidelines; the claim therefore cannot be verified from this source. (LLM, conf=0.74)
Experimental — accuracy not yet measuredIsolated effects of individual inflammatory cytokines, including type 1 interferons (IFNa/b), type 2 IFN (IFNg), TNFa, and IL-1, have been well-documented in mouse hematopoietic development.
“The isolated effects of individual inflammatory cytokines, including type 1 interferons (IFNa/b) 1-3 , type 2 IFN (IFNg) 4-6 , TNFa 7,8 , and IL-1 9-11 , have been well-documented in mouse hematopoietic development.”
From Type 1 interferon perturbates clonal competition by reshaping human blood development (2026) · cites this paper as [2]
The Discussion describes murine models of DNMT3A or TET2 loss of function, not the effects of individual inflammatory cytokines on mouse hematopoietic development. Searches for interferons, TNF, IL-1, and cytokine effects found no passage addressing the claim in our copy; page numbers were not provided. (LLM, conf=0.76)
Experimental — accuracy not yet measuredIFNa did not alter CD90 expression after treatment in the HSPCs.
“Interestingly, while IFNa alters mouse HSC marker Sca-1 2 (rendering difficult the quantification of progenitor cell frequency changes by flow cytometric assessment in mice), IFNa did not alter CD90 expression after treatment in the HSPCs ( Fig. 2e, Supplementary Fig. 3c ).”
From Type 1 interferon perturbates clonal competition by reshaping human blood development (2026) · cites this paper as [2]
The Results section discusses blood-cell indexes and somatic mutations, not IFNα treatment or CD90 expression in HSPCs. Searches for the quoted claim and for IFNα, CD90, and Sca-1 found no passage in our copy that addresses the claim; the citing sentence instead points to its own figures. (LLM, conf=0.75)
Experimental — accuracy not yet measuredPreviously, induction of IFNa in mice have yielded mixed results demonstrating either an upregulation or downregulation of TNFa.
“Previously, induction of IFNa in mice have yielded mixed results demonstrating either an upregulation 2 or downregulation 53 of TNFa.”
From Type 1 interferon perturbates clonal competition by reshaping human blood development (2026) · cites this paper as [2]
The Discussion describes murine models of DNMT3A or TET2 loss of function, not IFNα induction or changes in TNFα. Searches of our copy for IFNα, TNFα, and their spelled-out names found no passage addressing the cited downregulation result. (LLM, conf=0.75)
Experimental — accuracy not yet measuredClonal hematopoiesis is common in elderly people.
“clonal hematopoiesis is a frequent event in elderly people.”
From Aging of hematopoietic stem cells (2018) · cites this paper as [76]
The epigenetic genes most frequently affected in these conditions include DNMT3A, EZH2, TET2, and SETDB1.
“Epigenetic genes that are relatively frequently affected in these conditions include DNMT3A, EZH2, TET2, and SETDB1.”
From Aging of hematopoietic stem cells (2018) · cites this paper as [76]
HSCs containing oncogenic mutations can overtake most of the hematopoietic system without transforming into leukemia.
“The phenomenon also appears to be counterintuitively well tolerated, where HSCs containing oncogenic mutations can overtake most of the hematopoietic system without transforming into leukemia (Jaiswal et al., 2014).”
From Unraveling Hematopoiesis through the Lens of Genomics (2020) · cites this paper as Jaiswal et al., 2014
In one study, a median of approximately 18% of blood cells carried the mutations.
“The size of these mutant clones was massive; in one study, a median of ~18% of blood cells carried the mutations 28.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
CHIP has been reported to be more common in older men and smokers and less common in Hispanics, although these associations are all relatively modest.
“For example, CHIP has been reported to be more common in older men 28 and smokers 27 and less common in Hispanics 28, although these associations are all relatively modest.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
In population-based cohorts that underwent exome sequencing, the presence of CHIP was associated with approximately 10-fold increased relative risk of hematological malignancies over several years of follow-up.
“Indeed, in population-based cohorts that underwent exome sequencing, the presence of CHIP was associated with ~10-fold increased relative risk of these malignancies over several years of follow-up 27,28.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
CHIP itself does not denote a malignancy, nor is it associated with clinically significant alterations in blood counts.
“CHIP itself does not denote a malignancy, nor is it associated with clinically significant alterations in blood counts 28,63.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
In an initial study, the increased mortality risk associated with CHIP could not be explained by cancer deaths but was instead related to increased cardiovascular mortality.
“In an initial study, this risk could not be explained by cancer deaths but was instead related to increased cardiovascular mortality 28.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
In one study, 4% of CHIP carriers developed a blood cancer over the subsequent 8 years, corresponding to approximately 0.5% of CHIP cases converting to malignancy per year.
“In one study, 4% of CHIP carriers developed a blood cancer over the subsequent 8 years, corresponding to ~0.5% of CHIP cases converting to malignancy per year 28.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
CHIP is associated with a 30-40% increased mortality risk.
“Several studies have found that CHIP is associated with a 30–40% increased mortality risk 27,28,37.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
Myeloid malignancies were most common in individuals with CHIP, although some people with CHIP did develop lymphoid cancers.
“Myeloid malignancies were most common, although some people with CHIP did develop lymphoid cancers 27,28.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
Some individuals with clonal hematopoiesis have virtually all of their blood cells arising from a single mutated HSC.
“Indeed, some individuals with clonal hematopoiesis have virtually all of their blood cells arising from a single mutated HSC 28.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
CHIP is associated with a 30% increase in the likelihood of having type 2 diabetes (T2D).
“CHIP has been found to be associated with a 30% increase in the likelihood of having type 2 diabetes (T2D) 28.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
Studies of serial samples have shown that the trajectory of a clone can vary between people.
“Studies of serial samples have shown that the trajectory of a clone can vary between people.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
Some people have clones that remain stagnant in size for many years, whereas other people have clones that show steady growth.
“Some people have clones that remain stagnant in size for many years, whereas other people have clones that show steady growth 28,33.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [28]
There is a causal link between mutations in HSPCs in the context of clonal hematopoiesis with indeterminate origin and altered transcriptional output of macrophages, which affect the vascular wall and contributes to atherosclerosis.
“These findings are supported by recent findings demonstrating a causal link between mutations in HSPCs in the context of clonal hematopoiesis with indeterminate origin and altered transcriptional output of macrophages, which affect the vascular wall and contributes to atherosclerosis.83,84”
From Inflammatory bone marrow microenvironment (2019) · cites this paper as [84]
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Cites
Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660 · see citing works
Inflammation in atherosclerosis
Libby, P. (2002) · Nature · doi:10.1038/nature01323 · Cited by 8,315 · see citing works
Nowell, P. C. (1976) · Science · doi:10.1126/science.959840 · Cited by 6,471 · see citing works
Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
The Cancer Genome Atlas Research Network (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1301689 · Cited by 5,078 · see citing works
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Cibulskis, K., Lawrence, M. S., Carter, S. L., Sivachenko, A., Jaffe, D. B., Sougnez, C. L., Gabriel, S., Meyerson, M. M., Lander, E. S., & Getz, G. A. (2013) · Nature Biotechnology · doi:10.1038/nbt.2514 · Cited by 4,838 · see citing works
Self-citationInflammation and insulin resistance
Shoelson, S. E. (2006) · Journal of Clinical Investigation · doi:10.1172/jci29069 · Cited by 4,769 · see citing works
Inflammation in Atherosclerosis
Libby, P. (2012) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.108.179705 · Cited by 3,748 · see citing works
Discovery and saturation analysis of cancer genes across 21 tumour types
Lawrence, M. S., Stojanov, P., Mermel, C. H., Robinson, J. T., Garraway, L. A., Golub, T. R., Meyerson, M., Gabriel, S. B., Lander, E. S., & Getz, G. (2014) · Nature · doi:10.1038/nature12912 · Cited by 3,096 · see citing works
Self-citationMacrophages, inflammation, and insulin resistance
Olefsky, J. M., & Glass, C. K. (2010) · Annual Review of Physiology · doi:10.1146/annurev-physiol-021909-135846 · Cited by 2,733 · see citing works
Recurring mutations found by sequencing an acute myeloid leukemia genome
Mardis, E. R., Ding, L., Dooling, D. J., Larson, D. E., McLellan, M. D., Chen, K., Koboldt, D. C., Fulton, R. S., Delehaunty, K. D., McGrath, S. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0903840 · Cited by 2,219 · see citing works
Clinical and biological implications of driver mutations in myelodysplastic syndromes
Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., et al. (2013) · Blood · doi:10.1182/blood-2013-08-518886 · Cited by 1,832 · see citing works
Clinical Effect of Point Mutations in Myelodysplastic Syndromes
Bejar, R., Stevenson, K., Abdel-Wahab, O., Galili, N., Nilsson, B., Garcia-Manero, G., Kantarjian, H., Raza, A., Levine, R. L., Neuberg, D., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1013343 · Cited by 1,627 · see citing works
Self-citationFrequent mutation of histone-modifying genes in non-Hodgkin lymphoma
Morin, R. D., Mendez-Lago, M., Mungall, A. J., Goya, R., Mungall, K. L., Corbett, R. D., Johnson, N. A., Severson, T. M., Chiu, R., Field, M., et al. (2011) · Nature · doi:10.1038/nature10351 · Cited by 1,614 · see citing works
The origin and evolution of mutations in acute myeloid leukemia
Welch, J. S., Ley, T. J., Link, D. C., Miller, C. A., Larson, D. E., Koboldt, D. C., Wartman, L. D., Lamprecht, T. L., Liu, F., Xia, J., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.023 · Cited by 1,575 · see citing works
A Long-Term Study of Prognosis in Monoclonal Gammopathy of Undetermined Significance
Kyle, R. A., Therneau, T. M., Rajkumar, S. V., Offord, J. R., Larson, D. R., Plevak, M. F., & Melton, L. J. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa01133202 · Cited by 1,475 · see citing works
Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia
Shlush, L. I., Zandi, S., Mitchell, A., Chen, W. C., Brandwein, J. M., Gupta, V., Kennedy, J. A., Schimmer, A. D., Schuh, A. C., Yee, K. W., et al. (2014) · Nature · doi:10.1038/nature13038 · Cited by 1,443 · see citing works
Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation
Moran-Crusio, K., Reavie, L., Shih, A., Abdel-Wahab, O., Ndiaye-Lobry, D., Lobry, C., Figueroa, M. E., Vasanthakumar, A., Patel, J., Zhao, X., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2011.06.001 · Cited by 1,339 · see citing works
Somatic<i>SF3B1</i>Mutation in Myelodysplasia with Ring Sideroblasts
Papaemmanuil, E., Cazzola, M., Boultwood, J., Malcovati, L., Vyas, P., Bowen, D., Pellagatti, A., Wainscoat, J. S., Hellstrom-Lindberg, E., Gambacorti-Passerini, C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1103283 · Cited by 1,222 · see citing works
Dnmt3a is essential for hematopoietic stem cell differentiation
Challen, G. A., Sun, D., Jeong, M., Luo, M., Jelinek, J., Berg, J. S., Bock, C., Vasanthakumar, A., Gu, H., Xi, Y., et al. (2012) · Nature Genetics · doi:10.1038/ng.1009 · Cited by 1,122 · see citing works
Lohr, J. G., Stojanov, P., Lawrence, M. S., Auclair, D., Chapuy, B., Sougnez, C. L., Cruz‐Gordillo, P., Knoechel, B., Asmann, Y. W., Slager, S. L., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1121343109 · Cited by 977 · see citing works
Self-citationQuivoron, C., Couronné, L., Della Valle, V., Lopez, C. K., Plo, I., Wagner-Ballon, O., Do Cruzeiro, M., Delhommeau, F., Arnulf, B., Stern, M.-H., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2011.06.003 · Cited by 924 · see citing works
Oncogenic CARD11 Mutations in Human Diffuse Large B Cell Lymphoma
Lenz, G., Davis, R., Ngo, V. N., Lam, L., George, T., Wright, G., Dave, S., Zhao, H., Xu, W.-H., Rosenwald, A., et al. (2008) · Science · doi:10.1126/science.1153629 · Cited by 896 · see citing works
Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis
Busque, L., Patel, J. P., Figueroa, M. E., Vasanthakumar, A., Provost, S., Hamilou, Z., Mollica, L., Li, J., Viale, A., Heguy, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2413 · Cited by 830 · see citing works
Koh, K. P., Yabuuchi, A., Rao, S., Huang, Y., Cunniff, K., Nardone, J., Laiho, A., Tahiliani, M., Sommer, C. A., Mostoslavsky, G., et al. (2011) · Cell Stem Cell · doi:10.1016/j.stem.2011.01.008 · Cited by 776 · see citing works
Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia
Jan, M., Snyder, T. M., Corces-Zimmerman, M. R., Vyas, P., Weissman, I. L., Quake, S. R., & Majeti, R. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004315 · Cited by 721 · see citing works
Corces-Zimmerman, M. R., Hong, W.-J., Weissman, I. L., Medeiros, B. C., & Majeti, R. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1324297111 · Cited by 705 · see citing works
Rollison, D. E. M., Howlader, N., Smith, M. T., Strom, S. S., Merritt, W. D., Ries, L. A. G., Edwards, B. K., & List, A. F. (2008) · Blood · doi:10.1182/blood-2008-01-134858 · Cited by 663 · see citing works
Red blood cell distribution width and the risk of death in middle-aged and older adults
Patel, K. V., Ferrucci, L., Ershler, W. B., Longo, D. L., & Guralnik, J. M. (2009) · Archives of Internal Medicine · doi:10.1001/archinternmed.2009.11 · Cited by 618 · see citing works
Monoclonal B-Cell Lymphocytosis and Chronic Lymphocytic Leukemia
Rawstron, A. C., Bennett, F. L., O’Connor, S. J. M., Kwok, M., Fenton, J. A. L., Plummer, M., Tute, R. M. D., Owen, R. G., Richards, S. J., Jack, A., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075290 · Cited by 612 · see citing works
Detectable clonal mosaicism from birth to old age and its relationship to cancer
Laurie, C. C., Laurie, C. A., Rice, K., Doheny, K. F., Zelnick, L. R., McHugh, C. P., Ling, H., Hetrick, K. N., Pugh, E. W., Amos, C., et al. (2012) · Nature Genetics · doi:10.1038/ng.2271 · Cited by 594 · see citing works
Self-citationDetectable clonal mosaicism and its relationship to aging and cancer
Jacobs, K. B., Yeager, M., Zhou, W., Wacholder, S., Wang, Z., Rodriguez-Santiago, B., Hutchinson, A., Deng, X., Liu, C., Horner, M.-J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2270 · Cited by 589 · see citing works
Self-citationNonrandom X-inactivation patterns in normal females: lyonization ratios vary with age
Busque, L., Mio, R., Mattioli, J., Brais, E., Blais, N., Lalonde, Y., Maragh, M., & Gilliland, D. (1996) · Blood · doi:10.1182/blood.v88.1.59.59 · Cited by 543 · see citing works
Red Blood Cell Distribution Width and Mortality Risk in a Community-Based Prospective Cohort
Perlstein, T. S., Weuve, J., Pfeffer, M. A., & Beckman, J. A. (2009) · Archives of Internal Medicine · doi:10.1001/archinternmed.2009.55 · Cited by 534 · see citing works
Recurrent DNMT3A mutations in patients with myelodysplastic syndromes
Walter, M. J., Ding, L., Shen, D., Shao, J., Grillot, M., McLellan, M., Fulton, R., Schmidt, H., Kalicki-Veizer, J., O'Laughlin, M., et al. (2011) · Leukemia · doi:10.1038/leu.2011.44 · Cited by 527 · see citing works
Genetic heterogeneity of diffuse large B-cell lymphoma
Zhang, J., Grubor, V. D., Love, C., Banerjee, A., Richards, K. L., Mieczkowski, P. A., Dunphy, C. H., Choi, W., Au, W. Y., Srivastava, G., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1205299110 · Cited by 527 · see citing works
Costello, M., Pugh, T. J., Fennell, T. J., Stewart, C., Lichtenstein, L., Meldrim, J. C., Fostel, J., Friedrich, D. C., Perrin, D., Dionne, D. A., et al. (2013) · Nucleic Acids Research · doi:10.1093/nar/gks1443 · Cited by 523 · see citing works
Self-citationTET2 and DNMT3A Mutations in Human T-Cell Lymphoma
Couronné, L., Bastard, C., & Bernard, O. (2012) · New England Journal of Medicine · doi:10.1056/nejmc1111708 · Cited by 472 · see citing works
Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age
Busque, L., Mio, R., Mattioli, J., et al. (1996) · Blood · doi:10.1182/blood.v88.1.59.bloodjournal88159 · Cited by 462 · see citing works
A targeted mutational landscape of angioimmunoblastic T-cell lymphoma
Odejide, O. O., Weigert, O., Lane, A. A., Toscano, D. T., Lunning, M. A., Kopp, N., Kim, S. S., van Bodegom, D., Bolla, S., Schatz, J. H., et al. (2013) · Blood · doi:10.1182/blood-2013-10-531509 · Cited by 426 · see citing works
Large conserved domains of low DNA methylation maintained by Dnmt3a
Jeong, M., Sun, D., Luo, M., Huang, Y., Challen, G. A., Rodriguez, B., Zhang, X., Chavez, L., Wang, H., Hannah, R., et al. (2014) · Nature Genetics · doi:10.1038/ng.2836 · Cited by 324 · see citing works
Red cell distribution width and all-cause mortality in critically ill patients*
Bazick, H. S., Chang, D., Mahadevappa, K., Gibbons, F. K., & Christopher, K. B. (2011) · Critical Care Medicine · doi:10.1097/ccm.0b013e31821b85c6 · Cited by 301 · see citing works
Clonal diversity of recurrently mutated genes in myelodysplastic syndromes
Walter, M. J., Shen, D., Shao, J., Ding, L., White, B. S., Kandoth, C., Miller, C. A., Niu, B., McLellan, M. D., Dees, N. D., et al. (2013) · Leukemia · doi:10.1038/leu.2013.58 · Cited by 284 · cited 1× · see citing works
“Sequencing studies have identified a set of recurrent mutations in several types of hematologic cancers.(12-24) However, the frequency of these somatic mutations in the general population is unknown.”
Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations
Neumann, M., Heesch, S., Schlee, C., Schwartz, S., Gökbuget, N., Hoelzer, D. F., Konstandin, N. P., Ksienzyk, B., Vosberg, S., Graf, A., et al. (2013) · Blood · doi:10.1182/blood-2012-11-465138 · Cited by 216 · see citing works
Champion, K. M., Gilbert, J. G. R., Asimakopoulos, F. A., Hinshelwood, S., & Green, A. R. (1997) · British Journal of Haematology · doi:10.1046/j.1365-2141.1997.1933010.x · Cited by 171 · see citing works
T-Cell chronic lymphocytic leukemia
Aisenberg, A. C., Wilkes, B. M., Harris, N. L., & Koh, H. K. (1982) · The American Journal of Medicine · doi:10.1016/0002-9343(82)90482-x · Cited by 166 · see citing works
Bonnefond, A., Skrobek, B., Lobbens, S., Eury, E., Thuillier, D., Cauchi, S., Lantieri, O., Balkau, B., Riboli, E., Marre, M., et al. (2013) · Nature Genetics · doi:10.1038/ng.2700 · Cited by 139 · see citing works
Asmar, F., Punj, V., Christensen, J. F., Pedersen, M. T., Pedersen, A., Nielsen, A. B., Hother, C., Ralfkiær, U., Brown, P. D. N., Ralfkiaer, E. M., et al. (2013) · Haematologica · doi:10.3324/haematol.2013.088740 · Cited by 139 · see citing works
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1 of the 48 references couldn’t be matched to a known paper.
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Arber, D. A., Orazi, A., Hasserjian, R., Thiele, J., Borowitz, M. J., Le Beau, M. M., Bloomfield, C. D., Cazzola, M., & Vardiman, J. W. (2016) · Blood · doi:10.1182/blood-2016-03-643544 · Cited by 10,119 · see citing works
Döhner, H., Estey, E. H., Grimwade, D. J., Amadori, S., Appelbaum, F. R., Büchner, T., Dombret, H., Ebert, B. L., Fenaux, P., Larson, R. A., et al. (2016) · Blood · doi:10.1182/blood-2016-08-733196 · Cited by 5,776 · see citing works
Self-citationGenomic classification and prognosis in acute myeloid leukemia
Papaemmanuil, E., Gerstung, M., Bullinger, L., Gaidzik, V. I., Paschka, P., Roberts, N. D., Potter, N. E., Heuser, M., Thol, F., Bolli, N., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1516192 · Cited by 4,350 · see citing works
Khoury, J. D., Solary, E., Abla, O., Akkari, Y., Alaggio, R., Apperley, J. F., Bejar, R., Berti, E., Busque, L., Chan, J. K. C., et al. (2022) · Leukemia · doi:10.1038/s41375-022-01613-1 · Cited by 4,274 · see citing works
Döhner, H., Weisdorf, D. J., & Bloomfield, C. D. (2015) · New England Journal of Medicine · doi:10.1056/nejmra1406184 · Cited by 3,354 · see citing works
Arber, D. A., Orazi, A., Hasserjian, R. P., Borowitz, M. J., Calvo, K. R., Kvasnicka, H.-M., Wang, S. A., Bagg, A., Barbui, T., Branford, S., et al. (2022) · Blood · doi:10.1182/blood.2022015850 · Cited by 2,945 · see citing works
Self-citationThe changing landscape of atherosclerosis
Libby, P. (2021) · Nature · doi:10.1038/s41586-021-03392-8 · Cited by 2,873 · see citing works
Detection and localization of surgically resectable cancers with a multi-analyte blood test
Cohen, J. D., Li, L., Wang, Y., Thoburn, C., Afsari, B., Danilova, L., Douville, C., Javed, A. A., Wong, F., Mattox, A., et al. (2018) · Science · doi:10.1126/science.aar3247 · Cited by 2,783 · see citing works
Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease
Jaiswal, S., Natarajan, P., Silver, A. J., Gibson, C. J., Bick, A. G., Shvartz, E., McConkey, M., Gupta, N., Gabriel, S., Ardissino, D., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1701719 · Cited by 2,683 · see citing works
Self-citationStandards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
Li, M. M., Datto, M., Duncavage, E. J., Kulkarni, S., Lindeman, N. I., Roy, S., Tsimberidou, A. M., Vnencak‐Jones, C. L., Wolff, D. J., Younes, A., et al. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.10.002 · Cited by 2,054 · see citing works
Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes
Steensma, D. P., Bejar, R., Jaiswal, S., Lindsley, R. C., Sekeres, M. A., Hasserjian, R. P., & Ebert, B. L. (2015) · Blood · doi:10.1182/blood-2015-03-631747 · Cited by 1,971 · see citing works
Self-citationHigh burden and pervasive positive selection of somatic mutations in normal human skin
Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S., Wedge, D. C., Fullam, A., Alexandrov, L. B., Tubio, J. M., et al. (2015) · Science · doi:10.1126/science.aaa6806 · Cited by 1,770 · see citing works
Breast Cancer, Version 4.2017, NCCN Clinical Practice Guidelines in Oncology
Gradishar, W. J., Anderson, B. O., Balassanian, R., Blair, S. L., Burstein, H. J., Cyr, A. E., ELIAS, A. D., Farrar, W. B., Forero, A., Giordano, S. H., et al. (2018) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2018.0012 · Cited by 1,607 · see citing works
Current and future perspectives of liquid biopsies in genomics-driven oncology
Heitzer, E., Haque, I. S., Roberts, C. E. S., & Speicher, M. R. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-018-0071-5 · Cited by 1,557 · see citing works
Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice
Fuster, J. J., MacLauchlan, S., Zuriaga, M. A., Polackal, M. N., Ostriker, A. C., Chakraborty, R., Wu, C.-L., Sano, S., Muralidharan, S., Rius, C., et al. (2017) · Science · doi:10.1126/science.aag1381 · Cited by 1,536 · see citing works
Somatic mutation in cancer and normal cells
Martincorena, I., & Campbell, P. J. (2015) · Science · doi:10.1126/science.aab4082 · Cited by 1,396 · see citing works
Functional genomic landscape of acute myeloid leukaemia
Tyner, J. W., Tognon, C. E., Bottomly, D., Wilmot, B., Kurtz, S. E., Savage, S. L., Long, N., Schultz, A. R., Traer, E. A., Abel, M. L., et al. (2018) · Nature · doi:10.1038/s41586-018-0623-z · Cited by 1,330 · see citing works
Clonal hematopoiesis in human aging and disease
Jaiswal, S., & Ebert, B. L. (2019) · Science · doi:10.1126/science.aan4673 · Cited by 1,156 · see citing works
“Indeed, some individuals with clonal hematopoiesis have nearly all of their blood cells arising from a single mutated HSC (29).”
BackgroundInfluentialSelf-citationCorces, M. R., Buenrostro, J. D., Wu, B., Greenside, P. G., Chan, S. M., Koenig, J. L., Snyder, M. P., Pritchard, J. K., Kundaje, A., Greenleaf, W. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3646 · Cited by 1,151 · see citing works
Schuurhuis, G. J., Heuser, M., Freeman, S. D., Béné, M. C., Buccisano, F., Cloos, J. J., Grimwade, D. J., Haferlach, T., Hills, R. K., Hourigan, C. S., et al. (2018) · Blood · doi:10.1182/blood-2017-09-801498 · Cited by 1,051 · see citing works
Role of TET enzymes in DNA methylation, development, and cancer
Rasmussen, K. D., & Helin, K. (2016) · Genes & Development · doi:10.1101/gad.276568.115 · Cited by 1,040 · see citing works
Interplay between inflammation and thrombosis in cardiovascular pathology
Stark, K., & Massberg, S. (2021) · Nature Reviews Cardiology · doi:10.1038/s41569-021-00552-1 · Cited by 1,033 · see citing works
DNA methylation aging clocks: challenges and recommendations
Bell, C. G., Lowe, R., Adams, P. D., Baccarelli, A. A., Beck, S., Bell, J. T., Christensen, B. C., Gladyshev, V. N., Heijmans, B. T., Horvath, S., et al. (2019) · Genome Biology · doi:10.1186/s13059-019-1824-y · Cited by 1,025 · see citing works
Acute myeloid leukemia ontogeny is defined by distinct somatic mutations
Lindsley, R. C., Mar, B. G., Mazzola, E., Grauman, P. V., Shareef, S., Allen, S. L., Pigneux, A., Wetzler, M., Stuart, R. K., Erba, H. P., et al. (2015) · Blood · doi:10.1182/blood-2014-11-610543 · Cited by 991 · see citing works
Self-citationApplication of Cell-free DNA Analysis to Cancer Treatment
Corcoran, R. B., & Chabner, B. A. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1706174 · Cited by 965 · see citing works
Merker, J. D., Oxnard, G. R., Compton, C., Diehn, M., Hurley, P., Lazar, A. J., Lindeman, N., Lockwood, C. M., Rai, A. J., Schilsky, R. L., et al. (2018) · Journal of Clinical Oncology · doi:10.1200/jco.2017.76.8671 · Cited by 959 · see citing works
Epidemiology of acute myeloid leukemia: Recent progress and enduring challenges
Shallis, R. M., Wang, R., Davidoff, A. J., Ma, X., & Zeidan, A. M. (2019) · Blood Reviews · doi:10.1016/j.blre.2019.04.005 · Cited by 949 · see citing works
Tissue-specific mutation accumulation in human adult stem cells during life
Blokzijl, F., de Ligt, J., Jager, M., Sasselli, V., Roerink, S., Sasaki, N., Huch, M., Boymans, S., Kuijk, E., Prins, P., et al. (2016) · Nature · doi:10.1038/nature19768 · Cited by 935 · see citing works
Coombs, C. C., Zehir, A., Devlin, S. M., Kishtagari, A., Syed, A., Jonsson, P., Hyman, D. M., Solit, D. B., Robson, M. E., Baselga, J., et al. (2017) · Cell stem cell · doi:10.1016/j.stem.2017.07.010 · Cited by 866 · see citing works
Prediction of acute myeloid leukaemia risk in healthy individuals
Abelson, S., Collord, G., Ng, S. W. K., Weissbrod, O., Mendelson Cohen, N., Niemeyer, E., Barda, N., Zuzarte, P. C., Heisler, L., Sundaravadanam, Y., et al. (2018) · Nature · doi:10.1038/s41586-018-0317-6 · Cited by 850 · see citing works
Short, N. J., Rytting, M., & Cortes, J. E. (2018) · The Lancet · doi:10.1016/s0140-6736(18)31041-9 · Cited by 815 · see citing works
<i>TP53</i> and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes
Welch, J. S., Petti, A. A., Miller, C. A., Fronick, C. C., O’Laughlin, M., Fulton, R. S., Wilson, R. K., Baty, J. D., Duncavage, E. J., Tandon, B., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1605949 · Cited by 796 · see citing works
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
Razavi, P., Li, B. T., Brown, D. N., Jung, B., Hubbell, E. A., Shen, R., Abida, W. M., Juluru, K., de Bruijn, I., Hou, C., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0652-7 · Cited by 795 · see citing works
Pascual, J., Attard, G., Bidard, F.-C., Curigliano, G., De Mattos-Arruda, L., Diehn, M., Italiano, A., Lindberg, J., Merker, J. D., Montagut, C., et al. (2022) · Annals of Oncology · doi:10.1016/j.annonc.2022.05.520 · Cited by 783 · see citing works
Molecular Minimal Residual Disease in Acute Myeloid Leukemia
Jongen‐Lavrencic, M., Grob, T., Hanekamp, D., Kavelaars, F. G., Hinai, A. S. A. A., Zeilemaker, A., Erpelinck-Verschueren, C. A. J., Gradowska, P. L., Meijer, R. J., Cloos, J. J., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1716863 · Cited by 783 · see citing works
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
Zink, F., Stacey, S. N., Norddahl, G. L., Frigge, M. L., Magnusson, O. T., Jonsdottir, I., Thorgeirsson, T. E., Sigurdsson, A., Gudjonsson, S. A., Gudmundsson, J., et al. (2017) · Blood · doi:10.1182/blood-2017-02-769869 · Cited by 777 · see citing works
Murphy, S., Kakkar, R. K., McCarthy, C. P., & Januzzi, J. L. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.01.014 · Cited by 775 · see citing works
The Role of Inflammation in Cardiovascular Disease
Henein, M. Y., Vancheri, S., Longo, G., & Vancheri, F. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232112906 · Cited by 764 · see citing works
Cancer therapy shapes the fitness landscape of clonal hematopoiesis
Bolton, K. L., Ptashkin, R. N., Gao, T., Braunstein, L., Devlin, S. M., Kelly, D., Patel, M., Berthon, A., Syed, A., Yabe, M., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-00710-0 · Cited by 751 · see citing works
Self-citationThe landscape of somatic mutation in normal colorectal epithelial cells
Lee-Six, H., Olafsson, S., Ellis, P., Osborne, R. J., Sanders, M. A., Moore, L., Georgakopoulos, N., Torrente, F., Noorani, A., Goddard, M., et al. (2019) · Nature · doi:10.1038/s41586-019-1672-7 · Cited by 747 · see citing works
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Bick, A. G., Weinstock, J. S., Nandakumar, S. K., Fulco, C. P., Bao, E. L., Zekavat, S. M., Szeto, M. D., Liao, X., Leventhal, M. J., Nasser, J., et al. (2020) · Nature · doi:10.1038/s41586-020-2819-2 · Cited by 733 · see citing works
Self-citationSano, S., Oshima, K., Wang, Y., MacLauchlan, S., Katanasaka, Y., Sano, M., Zuriaga, M. A., Yoshiyama, M., Goukassian, D., Cooper, M. A., et al. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.12.037 · Cited by 699 · see citing works
Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults
Young, A. L., Challen, G. A., Birmann, B. M., & Druley, T. E. (2016) · Nature Communications · doi:10.1038/ncomms12484 · Cited by 692 · see citing works
Variant interpretation using population databases: Lessons from gnomAD
Gudmundsson, S., Singer‐Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson, M., Rehm, H. L., MacArthur, D. G., & O’Donnell‐Luria, A. (2021) · Human Mutation · doi:10.1002/humu.24309 · Cited by 679 · see citing works
The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia
Sperling, A. S., Gibson, C. J., & Ebert, B. L. (2016) · Nature reviews. Cancer · doi:10.1038/nrc.2016.112 · Cited by 676 · see citing works
Self-citationMonocyte-macrophages and T cells in atherosclerosis
Tabas, I., & Lichtman, A. H. (2017) · Immunity · doi:10.1016/j.immuni.2017.09.008 · Cited by 646 · see citing works
Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms
Vainchenker, W., & Královics, R. (2016) · Blood · doi:10.1182/blood-2016-10-695940 · Cited by 673 · see citing works
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia
Yoshizato, T., Dumitriu, B., Hosokawa, K., Makishima, H., Yoshida, K., Townsley, D., Sato-Otsubo, A., Sato, Y., Liu, D., Suzuki, H., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1414799 · Cited by 646 · see citing works
Barbui, T., Thiele, J., Gisslinger, H., Kvasnicka, H. M., Vannucchi, A. M., Guglielmelli, P., Orazi, A., & Tefferi, A. (2018) · Blood Cancer Journal · doi:10.1038/s41408-018-0054-y · Cited by 644 · see citing works
Cardiovascular Toxic Effects of Targeted Cancer Therapies
Moslehi, J. J. (2016) · New England Journal of Medicine · doi:10.1056/nejmra1100265 · Cited by 643 · see citing works
Classification and Personalized Prognosis in Myeloproliferative Neoplasms
Grinfeld, J., Nangalia, J., Baxter, E. J., Wedge, D. C., Angelopoulos, N., Cantrill, R., Godfrey, A. L., Papaemmanuil, E., Gundem, G., MacLean, C., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1716614 · Cited by 630 · see citing works
Age-related remodelling of oesophageal epithelia by mutated cancer drivers
Yokoyama, A., Kakiuchi, N., Yoshizato, T., Nannya, Y., Suzuki, H., Takeuchi, Y., Shiozawa, Y., Sato, Y., Aoki, K., Kim, S. K., et al. (2019) · Nature · doi:10.1038/s41586-018-0811-x · Cited by 628 · see citing works
The emerging clinical relevance of genomics in cancer medicine
Berger, M. F., & Mardis, E. R. (2018) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-018-0002-6 · Cited by 627 · see citing works
Somatic mutations precede acute myeloid leukemia years before diagnosis
Desai, P., Mencia-Trinchant, N., Savenkov, O., Simon, M. S., Cheang, G., Lee, S., Samuel, M., Ritchie, E. K., Guzman, M. L., Ballman, K. V., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0081-z · Cited by 619 · see citing works
The Aging Cardiovascular System
Paneni, F., Diaz Cañestro, C., Libby, P., Lüscher, T. F., & Camici, G. G. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.01.064 · Cited by 618 · see citing works
Khwaja, A., Björkholm, M., Gale, R. E., Levine, R. L., Jordan, C. T., Ehninger, G., Bloomfield, C. D., Estey, E. H., Burnett, A. K., Cornelissen, J. J., et al. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.10 · Cited by 618 · see citing works
Population dynamics of normal human blood inferred from somatic mutations
Lee-Six, H., Øbro, N. F., Shepherd, M. S., Grossmann, S., Dawson, K., Belmonte, M., Osborne, R. J., Huntly, B. J. P., Martincorena, I., Anderson, E., et al. (2018) · Nature · doi:10.1038/s41586-018-0497-0 · Cited by 604 · see citing works
Circulating tumor DNA and liquid biopsy in oncology
Cescon, D. W., Bratman, S. V., Chan, S. M., & Siu, L. L. (2020) · Nature Cancer · doi:10.1038/s43018-020-0043-5 · Cited by 600 · see citing works
Cohen, J. D., Javed, A. A., Thoburn, C. J., Wong, F., Tie, J., Gibbs, P., Schmidt, C. M., Yip-Schneider, M., Allen, P. J., Schattner, M. A., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1704961114 · Cited by 581 · see citing works
A causal mechanism for childhood acute lymphoblastic leukaemia
Greaves, M. F. (2018) · Nature reviews. Cancer · doi:10.1038/s41568-018-0015-6 · Cited by 560 · see citing works
An update of current treatments for adult acute myeloid leukemia
Dombret, H., & Gardin, C. (2015) · Blood · doi:10.1182/blood-2015-08-604520 · Cited by 556 · see citing works
The roles of DNA, RNA and histone methylation in ageing and cancer
Michalak, E. M., Burr, M. L., Bannister, A. J., & Dawson, M. A. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0143-1 · Cited by 549 · see citing works
Inflammation, Immunity, and Infection in Atherothrombosis
Libby, P., Loscalzo, J., Ridker, P. M., Farkouh, M. E., Hsue, P. Y., Fuster, V., Hasan, A. A., & Amar, S. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.08.1043 · Cited by 548 · see citing works
Ascorbate regulates haematopoietic stem cell function and leukaemogenesis
Agathocleous, M., Meacham, C. E., Burgess, R. J., Piskounova, E., Zhao, Z., Crane, G. M., Cowin, B. L., Bruner, E., Murphy, M. M., Chen, W., et al. (2017) · Nature · doi:10.1038/nature23876 · Cited by 545 · see citing works
Genomics of Acute Myeloid Leukemia Diagnosis and Pathways
Bullinger, L., Döhner, K., & Döhner, H. (2017) · Journal of Clinical Oncology · doi:10.1200/jco.2016.71.2208 · Cited by 544 · see citing works
Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms
Diamond, E. L., Durham, B. H., Haroche, J., Yao, Z., Ma, J., Parikh, S. A., Wang, Z., Choi, J. K., Kim, E. H., Aubart, F. C., et al. (2015) · Cancer Discovery · doi:10.1158/2159-8290.cd-15-0913 · Cited by 538 · see citing works
Exome-wide association study of plasma lipids in >300,000 individuals
Charge Diabetes Working Group, Liu, D. J., Program, V. M. V., Peloso, G. M., Yu, H., Butterworth, A. S., Wang, X. Q., Mahajan, A., Saleheen, D., Emdin, C. A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3977 · Cited by 537 · see citing works
Self-citationEnhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations
Salk, J. J., Schmitt, M. W., & Loeb, L. A. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.117 · Cited by 536 · see citing works
Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis
McKerrell, T., Park, N., Moreno, T., Grove, C. S., Ponstingl, H., Stephens, J., Crawley, C., Craig, J., Scott, M. A., Hodkinson, C., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.02.005 · Cited by 534 · see citing works
Molecular and physiological manifestations and measurement of aging in humans
Khan, S. S., Singer, B. D., & Vaughan, D. E. (2017) · Aging Cell · doi:10.1111/acel.12601 · Cited by 530 · see citing works
Daly, M. B., Pilarski, R., Yurgelun, M. B. B., Berry, M. P., Buys, S. S., Dickson, P., Domchek, S. M., Elkhanany, A. M., Friedman, S., Garber, J. E., et al. (2020) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2020.0017 · Cited by 512 · see citing works
DNMT3A in haematological malignancies
Yang, L., Rau, R. E., & Goodell, M. A. (2015) · Nature reviews. Cancer · doi:10.1038/nrc3895 · Cited by 509 · see citing works
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations
Merkle, F. T., Ghosh, S., Kamitaki, N., Mitchell, J., Avior, Y., Mello, C., Kashin, S., Mekhoubad, S., Ilic, D., Charlton, M., et al. (2017) · Nature · doi:10.1038/nature22312 · Cited by 506 · see citing works
Mechanisms underlying T cell ageing
Goronzy, J. J., & Weyand, C. M. (2019) · Nature Reviews Immunology · doi:10.1038/s41577-019-0180-1 · Cited by 506 · see citing works
Single-cell mutation analysis of clonal evolution in myeloid malignancies
Miles, L. A., Bowman, R. L., Merlinsky, T. R., Csete, I. S., Ooi, A. T., Durruthy-Durruthy, R., Bowman, M., Famulare, C. A., Patel, M. A., Méndez, P., et al. (2020) · Nature · doi:10.1038/s41586-020-2864-x · Cited by 506 · see citing works
Clonal dynamics of haematopoiesis across the human lifespan
Mitchell, E., Chapman, M. S., Williams, N., Dawson, K. J., Mende, N., Calderbank, E. F., Jung, H., Mitchell, T. J., Coorens, T. H. H., Spencer, D. H., et al. (2022) · Nature · doi:10.1038/s41586-022-04786-y · Cited by 500 · see citing works
RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues
Yizhak, K., Aguet, F., Kim, J., Hess, J. M., Kübler, K., Grimsby, J., Frazer, R., Zhang, H., Haradhvala, N. J., Rosebrock, D., et al. (2019) · Science · doi:10.1126/science.aaw0726 · Cited by 500 · see citing works
Self-citationThe mutational landscape of normal human endometrial epithelium
Moore, L., Leongamornlert, D., Coorens, T. H. H., Sanders, M. A., Ellis, P., Dentro, S. C., Dawson, K. J., Butler, T., Rahbari, R., Mitchell, T. J., et al. (2020) · Nature · doi:10.1038/s41586-020-2214-z · Cited by 499 · see citing works
Cardiac macrophages promote diastolic dysfunction
Hulsmans, M., Sager, H. B., Roh, J. D., Valero‐Muñoz, M., Houstis, N. E., Iwamoto, Y., Sun, Y., Wilson, R. M., Wojtkiewicz, G. R., Tricot, B., et al. (2018) · The Journal of Experimental Medicine · doi:10.1084/jem.20171274 · Cited by 498 · see citing works
Cazzola, M. (2020) · New England Journal of Medicine · doi:10.1056/nejmra1904794 · Cited by 496 · see citing works
Biology and relevance of human acute myeloid leukemia stem cells.
Thomas, D., & Majeti, R. (2017) · Blood · doi:10.1182/blood-2016-10-696054 · Cited by 439 · see citing works
Rejeski, K., Perez, A. P., Sesques, P., Hoster, E., Berger, C., Jentzsch, L., Mougiakakos, D., Frölich, L., Ackermann, J., Bücklein, V., et al. (2021) · Blood · doi:10.1182/blood.2020010543 · Cited by 490 · see citing works
Bone marrow niches in haematological malignancies
Méndez‐Ferrer, S., Bonnet, D. A., Steensma, D. P., Hasserjian, R. P., Ghobrial, I. M., Gribben, J. G., Andreeff, M., & Krause, D. S. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-0245-2 · Cited by 486 · see citing works
Fundamental Biological Features of Spaceflight: Advancing the Field to Enable Deep-Space Exploration
Afshinnekoo, E., Scott, R. T., MacKay, M. J., Pariset, E., Cekanaviciute, E., Barker, R. J., Gilroy, S., Hassane, D. C., Smith, S. M., Zwart, S. R., et al. (2020) · Cell · doi:10.1016/j.cell.2020.10.050 · Cited by 484 · see citing works
Wolach, O., Sellar, R. S., Martinod, K., Cherpokova, D., McConkey, M., Chappell, R. J., Silver, A. J., Adams, D., Castellano, C. A., Schneider, R. K., et al. (2018) · Science Translational Medicine · doi:10.1126/scitranslmed.aan8292 · Cited by 481 · see citing works
Self-citationSomatic mutation rates scale with lifespan across mammals
Cagan, A., Baez-Ortega, A., Brzozowska, N., Abascal, F., Coorens, T. H. H., Sanders, M. A., Lawson, A. R. J., Harvey, L. M. R., Bhosle, S., Jones, D., et al. (2022) · Nature · doi:10.1038/s41586-022-04618-z · Cited by 481 · see citing works
Gibson, C. J., Lindsley, R. C., Tchekmedyian, V., Mar, B. G., Shi, J., Jaiswal, S., Bosworth, A., Francisco, L., He, J., Bansal, A., et al. (2017) · Journal of Clinical Oncology · doi:10.1200/jco.2016.71.6712 · Cited by 480 · see citing works
Self-citationAnemia at older age: etiologies, clinical implications, and management
Stauder, R., Valent, P., & Theurl, I. (2018) · Blood · doi:10.1182/blood-2017-07-746446 · Cited by 479 · see citing works
Clinical significance of somatic mutation in unexplained blood cytopenia
Malcovati, L., Gallì, A., Travaglino, E., Ambaglio, I., Rizzo, E., Molteni, E., Elena, C., Ferretti, V. V., Catricalà, S., Bono, E. B., et al. (2017) · Blood · doi:10.1182/blood-2017-01-763425 · Cited by 476 · see citing works
Dorsheimer, L., Assmus, B., Rasper, T., Ortmann, C. A., Ecke, A., Abou-El-Ardat, K., Schmid, T., Brüne, B., Wagner, S., Serve, H., et al. (2019) · JAMA Cardiology · doi:10.1001/jamacardio.2018.3965 · Cited by 470 · see citing works
False-Positive Plasma Genotyping Due to Clonal Hematopoiesis
Hu, Y., Ulrich, B. C., Supplee, J., Kuang, Y., Lizotte, P. H., Feeney, N. B., Guibert, N. M., Awad, M. M., Wong, K., Janne, P. A., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-0143 · Cited by 461 · see citing works
Dinardo, C. D., Erba, H. P., Freeman, S. D., & Wei, A. H. (2023) · The Lancet · doi:10.1016/s0140-6736(23)00108-3 · Cited by 463 · see citing works
Advances in acute myeloid leukemia
Newell, L. F., & Cook, R. J. (2021) · BMJ · doi:10.1136/bmj.n2026 · Cited by 455 · see citing works
Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance
Grimwade, D. J., Ivey, A., & Huntly, B. J. P. (2015) · Blood · doi:10.1182/blood-2015-07-604496 · Cited by 451 · see citing works
New insights into the generation and role of de novo mutations in health and disease
Acuña‐Hidalgo, R., Veltman, J. A., & Hoischen, A. (2016) · Genome biology · doi:10.1186/s13059-016-1110-1 · Cited by 451 · see citing works
Clonal Hematopoiesis and Evolution to Hematopoietic Malignancies
Bowman, R. L., Busque, L., & Levine, R. L. (2018) · Cell stem cell · doi:10.1016/j.stem.2018.01.011 · Cited by 448 · see citing works
The evolutionary dynamics and fitness landscape of clonal hematopoiesis
Watson, C. J., Papula, A. L., Poon, G. Y. P., Wong, W. H., Young, A. L., Druley, T. E., Fisher, D. S., & Blundell, J. R. (2020) · Science · doi:10.1126/science.aay9333 · Cited by 444 · see citing works
Hourigan, C. S., Dillon, L. W., Gui, G., Logan, B. R., Fei, M., Ghannam, J. Y., Li, Y., Licon, A., Alyea, E. P., Bashey, A., et al. (2019) · Journal of Clinical Oncology · doi:10.1200/jco.19.03011 · Cited by 441 · see citing works
Boettcher, S., Miller, P. G., Sharma, R., McConkey, M., Leventhal, M., Krivtsov, A. V., Giacomelli, A. O., Wong, W., Kim, J., Chao, S., et al. (2019) · Science · doi:10.1126/science.aax3649 · Cited by 441 · see citing works
Self-citationInflammation during the life cycle of the atherosclerotic plaque
Libby, P. (2021) · Cardiovascular Research · doi:10.1093/cvr/cvab303 · Cited by 437 · see citing works
- Authors
- Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., Higgins, J. M., Moltchanov, V., Kuo, F. C., Kluk, M. J., Henderson, B., Kinnunen, L., Koistinen, H. A., Ladenvall, C., Getz, G., Correa, A., Banahan, B. F., Gabriel, S., Kathiresan, S., Stringham, H. M., McCarthy, M. I., Boehnke, M., Tuomilehto, J., Haiman, C., Groop, L., Atzmon, G., Wilson, J. G., Neuberg, D., Altshuler, D., & Ebert, B. L.
- Affiliations
- Brigham and Women's Hospital (US)
- Broad Institute (US)
- University of Helsinki (FI)
- University of Southern California (US)
- Helsinki University Hospital (FI)
- Lund University (SE)
- University of Mississippi Medical Center (US)
- University of Michigan (US)
- Centre for Human Genetics (GB)
- Universität für Weiterbildung Krems (AT)
- Albert Einstein College of Medicine (US)
- Harvard University (US)
- ORCID
- Jaiswal, Siddhartha
- Fontanillas, Pierre
- Flannick, Jason
- Manning, Alisa
- Mar, Brenton G.
- Lindsley, R. Coleman
- Mermel, Craig H.
- Chavez, Alejandro
- Higgins, John M.
- Kuo, Frank C.
- Kluk, Michael J.
- Kinnunen, Leena
- Koistinen, Heikki A.
- Ladenvall, Claes
- Getz, Gad
- Correa, Adolfo
- Banahan, Benjamin F.
- Gabriel, Stacey
- Kathiresan, Sekar
- Stringham, Heather M.
- McCarthy, Mark I.
- Boehnke, Michael
- Tuomilehto, Jaakko
- Groop, Leif
- Atzmon, Gil
- Wilson, James G.
- Neuberg, Donna
- Altshuler, David
- Ebert, Benjamin L.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2014-12-25
- Volume
- 371
- Issue
- 26
- Pages
- 2488-2498
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4306669
- OpenAlex
- W2149858388
- Cited by
- 4,841
- References
- 48
- Citations by year
- 2026: 423 · 2025: 446 · 2024: 494 · 2023: 521 · 2022: 536 · 2021: 520 · 2020: 454 · 2019: 387 · 2018: 356 · 2017: 301 · 2016: 237 · 2015: 151 · 2014: 6 · 2013: 1 · 2012: 3
- FWCI
- 164.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Lund University Publications (Lund University) (submittedVersion, other-oa)
- STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
- Funders
- Wellcome Trust (090367, 085475, 098381, 090532, 083948)
- National Institutes of Health (5rc2dk088389-02)
- National Institute on Aging (R01AG042188, P01AG021654, P30AG038072)
- National Heart, Lung, and Blood Institute (R01HL082945, T32HL066987)
- National Human Genome Research Institute (U54HG003067)
- National Cancer Institute (T32CA009216, T32CA009172, P01CA066996)
- National Institute of Diabetes and Digestive and Kidney Diseases (U01DK085526, U01DK085584, DP2DK098087, U01DK085501, U01DK085524, RC2-DK088389, U01DK085545, DK088389, P30DK020572)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
- Keywords
- age-related clonal hematopoiesis, somatic mutations, all-cause mortality, coronary artery disease, ischemic stroke, cardiovascular disease, DNMT3A, TET2, ASXL1, peripheral blood, aging
- MeSH terms
- Adult, Age Factors, Aged, Aged, 80 and over, Blood, Cell Transformation, Neoplastic, Clone Cells, DNA Mutational Analysis, Hematopoiesis, Hematopoietic Stem Cells, Humans, Middle Aged, Mutation, Risk Factors, Hematologic Neoplasms, Young Adult, Exome
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