Detectable clonal mosaicism and its relationship to aging and cancer
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In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.
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The likelihood of CHIP increases with age, it appears in only a fraction of the population, and it increases the risk of cancer, cardiovascular disease, and other age-related morbidities.
“While the likelihood of CHIP increases with age, it appears in only a fraction of the population, and it increases the risk of cancer, cardiovascular disease, and other age-related morbidities (Bick et al., 2019a; Genovese et al., 2014; Jacobs et al., 2012; Jaiswal et al., 2014, 2017; Laurie et al., 2012; Xie et al., 2014).”
From Unraveling Hematopoiesis through the Lens of Genomics (2020) · cites this paper as Jacobs et al., 2012
Large structural variation, such as gains or losses of large segments of chromosomes, increases with age and has clinically meaningful associations.
“But large structural variation, such as gains or losses of large segments of chromosomes, also increases with age and has clinically meaningful associations 34–36.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [35]
Copy number gains or losses of DNMT3A, TET2, and ASXL1 are rarely found in surveys of somatic large structural variation.
“For example, copy number gains or losses of DNMT3A, TET2, and ASXL1, are rarely found in surveys of somatic large structural variation 35.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [35]
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- Authors
- Jacobs, K. B., Yeager, M., Zhou, W., Wacholder, S., Wang, Z., Rodriguez-Santiago, B., Hutchinson, A., Deng, X., Liu, C., Horner, M.-J., Cullen, M., Epstein, C. G., Burdett, L., Dean, M. C., Chatterjee, N., Sampson, J., Chung, C. C., Kovaks, J., Gapstur, S. M., Stevens, V. L., Teras, L. T., Gaudet, M. M., Albanes, D., Weinstein, S. J., Virtamo, J., Taylor, P. R., Freedman, N. D., Abnet, C. C., Goldstein, A. M., Hu, N., Yu, K., Yuan, J.-M., Liao, L., Ding, T., Qiao, Y.-L., Gao, Y.-T., Koh, W.-P., Xiang, Y.-B., Tang, Z.-Z., Fan, J.-H., Aldrich, M. C., Amos, C., Blot, W. J., Bock, C. H., Gillanders, E. M., Harris, C. C., Haiman, C. A., Henderson, B. E., Kolonel, L. N., Le Marchand, L., McNeill, L. H., Rybicki, B. A., Schwartz, A. G., Signorello, L. B., Spitz, M. R., Wiencke, J. K., Wrensch, M., Wu, X., Zanetti, K. A., Ziegler, R. G., Figueroa, J. D., Garcia-Closas, M., Malats, N., Marenne, G., Prokunina-Olsson, L., Baris, D., Schwenn, M., Johnson, A., Landi, M. T., Goldin, L., Consonni, D., Bertazzi, P. A., Rotunno, M., Rajaraman, P., Andersson, U., Freeman, L. E. B., Berg, C. D., Buring, J. E., Butler, M. A., Carreon, T., Feychting, M., Ahlbom, A., Gaziano, J. M., Giles, G. G., Hallmans, G., Hankinson, S. E., Hartge, P., Henriksson, R., Inskip, P. D., Johansen, C., Landgren, A., McKean-Cowdin, R., Michaud, D. S., Melin, B. S., Peters, U., Ruder, A. M., Sesso, H. D., Severi, G., Shu, X.-O., Visvanathan, K., White, E., Wolk, A., Zeleniuch-Jacquotte, A., Zheng, W., Silverman, D. T., Kogevinas, M., Gonzalez, J. R., Villa, O., Li, D., Duell, E. J., Risch, H. A., Olson, S. H., Kooperberg, C., Wolpin, B. M., Jiao, L., Hassan, M., Wheeler, W., Arslan, A. A., Bueno-de-Mesquita, H. B., Fuchs, C. S., Gallinger, S., Gross, M. D., Holly, E. A., Klein, A. P., LaCroix, A., Mandelson, M. T., Petersen, G., Boutron-Ruault, M.-C., Bracci, P. M., Canzian, F., Chang, K., Cotterchio, M., Giovannucci, E. L., Goggins, M., Bolton, J. A. H., Jenab, M., Khaw, K.-T., Krogh, V., Kurtz, R. C., McWilliams, R. R., Mendelsohn, J. B., Rabe, K. G., Riboli, E., Tjønneland, A., Tobias, G. S., Trichopoulos, D., Elena, J. W., Yu, H., Amundadottir, L., Stolzenberg-Solomon, R. Z., Kraft, P., Schumacher, F., Stram, D., Savage, S. A., Mirabello, L., Andrulis, I. L., Wunder, J. S., García, A. P., Sierrasesúmaga, L., Barkauskas, D. A., Gorlick, R. G., Purdue, M., Chow, W.-H., Moore, L. E., Schwartz, K. L., Davis, F. G., Hsing, A. W., Berndt, S. I., Black, A., Wentzensen, N., Brinton, L. A., Lissowska, J., Peplonska, B., McGlynn, K. A., Cook, M. B., Graubard, B. I., Kratz, C. P., Greene, M. H., Erickson, R. L., Hunter, D. J., Thomas, G., Hoover, R. N., Real, F. X., Fraumeni, J. F., Caporaso, N. E., Tucker, M., Rothman, N., Pérez-Jurado, L. A., & Chanock, S. J.
- Affiliations
- Division of Cancer Epidemiology and Genetics (US)
- National Cancer Institute (US)
- Frederick National Laboratory for Cancer Research (US)
- American Cancer Society (US)
- Finnish Institute for Health and Welfare (FI)
- University of Minnesota (US)
- Shanxi Provincial Cancer Hospital (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Shanghai Cancer Institute (CN)
- National University of Singapore (SG)
- Vanderbilt University (US)
- The University of Texas MD Anderson Cancer Center (US)
- International Epidemiology Institute (US)
- Wayne State University (US)
- National Institutes of Health (US)
- USC Norris Comprehensive Cancer Center (US)
- University of Hawaii Cancer Center (US)
- Henry Ford Health (US)
- Baylor College of Medicine (US)
- University of California, San Francisco (US)
- University of Milan (IT)
- Umeå University (SE)
- Brigham and Women's Hospital (US)
- Centers for Disease Control and Prevention (US)
- Karolinska Institutet (SE)
- The University of Melbourne (AU)
- Karolinska University Hospital (SE)
- Danish Cancer Society (DK)
- Brown University (US)
- University of Washington (US)
- Johns Hopkins University (US)
- Center for Research in Environmental Epidemiology (ES)
- Universitat Pompeu Fabra (ES)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- Yale University (US)
- Memorial Sloan Kettering Cancer Center (US)
- Fred Hutch Cancer Center (US)
- Information Management Services (US)
- New York University (US)
- University Medical Center Utrecht (NL)
- Group Health Cooperative (US)
- Mayo Clinic (US)
- German Cancer Research Center (DE)
- University of California, Irvine Medical Center (US)
- University of Toronto (CA)
- Centre international de recherche sur le cancer (FR)
- University of Cambridge (GB)
- Fondazione IRCCS Istituto Nazionale dei Tumori (IT)
- Harvard University (US)
- Mount Sinai Hospital (CA)
- Clinica Universidad de Navarra (ES)
- Albert Einstein College of Medicine (US)
- University of Illinois Chicago (US)
- The Maria Sklodowska-Curie National Research Institute of Oncology (PL)
- Medizinische Hochschule Hannover (DE)
- Walter Reed Army Institute of Research (US)
- Lyon 1 Université (FR)
- Corresponding author
- Chanock, Stephen J
- ORCID
- Jacobs, Kevin B
- Yeager, Meredith
- Zhou, Weiyin
- Wang, Zhaoming
- Hutchinson, Amy
- Epstein, Caroline G
- Dean, Michael C
- Chatterjee, Nilanjan
- Sampson, Joshua
- Gapstur, Susan M
- Stevens, Victoria L
- Gaudet, Mia M
- Albanes, Demetrius
- Weinstein, Stephanie J
- Taylor, Philip R
- Freedman, Neal D
- Abnet, Christian C
- Goldstein, Alisa M
- Hu, Nan
- Yu, Kai
- Yuan, Jian-Min
- Liao, Linda
- Qiao, You-Lin
- Koh, Woon-Puay
- Xiang, Yong-Bing
- Fan, Jin-Hu
- Aldrich, Melinda C
- Amos, Christopher
- Blot, William J
- Bock, Cathryn H
- Gillanders, Elizabeth M
- Harris, Curtis C
- Haiman, Christopher A
- Kolonel, Laurence N
- McNeill, Lorna H
- Rybicki, Benjamin A
- Schwartz, Ann G
- Wiencke, John K
- Wrensch, Margaret
- Wu, Xifeng
- Zanetti, Krista A
- Ziegler, Regina G
- Figueroa, Jonine D
- Baris, Dalsu
- Schwenn, Molly
- Johnson, Alison
- Landi, Maria Teresa
- Goldin, Lynn
- Consonni, Dario
- Bertazzi, Pier Alberto
- Rotunno, Melissa
- Rajaraman, Preetha
- Andersson, Ulrika
- Freeman, Laura E Beane
- Berg, Christine D
- Buring, Julie E
- Feychting, Maria
- Ahlbom, Anders
- Gaziano, J Michael
- Giles, Graham G
- Hankinson, Susan E
- Henriksson, Roger
- Johansen, Christoffer
- Michaud, Dominique S
- Peters, Ulrike
- Sesso, Howard D
- Severi, Gianluca
- Shu, Xiao-Ou
- Visvanathan, Kala
- White, Emily
- Wolk, Alicja
- Zheng, Wei
- Silverman, Debra T
- Kogevinas, Manolis
- Li, Donghui
- Duell, Eric J
- Risch, Harvey A
- Olson, Sara H
- Kooperberg, Charles
- Wolpin, Brian M
- Jiao, Li
- Hassan, Manal
- Wheeler, William
- Arslan, Alan A
- Fuchs, Charles S
- Holly, Elizabeth A
- Klein, Alison P
- LaCroix, Andrea
- Petersen, Gloria
- Bracci, Paige M
- Canzian, Federico
- Cotterchio, Michelle
- Giovannucci, Edward L
- Goggins, Michael
- Jenab, Mazda
- Khaw, Kay-Tee
- Krogh, Vittorio
- Kurtz, Robert C
- McWilliams, Robert R
- Rabe, Kari G
- Tjønneland, Anne
- Tobias, Geoffrey S
- Elena, Joanne W
- Yu, Herbert
- Amundadottir, Laufey
- Kraft, Peter
- Schumacher, Fredrick
- Stram, Daniel
- Savage, Sharon A
- Mirabello, Lisa
- Andrulis, Irene L
- Wunder, Jay S
- Barkauskas, Donald A
- Gorlick, Richard G
- Purdue, Mark
- Chow, Wong-Ho
- Moore, Lee E
- Schwartz, Kendra L
- Hsing, Ann W
- Berndt, Sonja I
- Black, Amanda
- Wentzensen, Nicolas
- Brinton, Louise A
- Lissowska, Jolanta
- McGlynn, Katherine A
- Cook, Michael B
- Graubard, Barry I
- Kratz, Christian P
- Greene, Mark H
- Thomas, Gilles
- Hoover, Robert N
- Real, Francisco X
- Caporaso, Neil E
- Tucker, Margaret
- Rothman, Nathaniel
- Chanock, Stephen J
- Venue
- Nature Genetics
- Published
- 2012-05-06
- Volume
- 44
- Issue
- 6
- Pages
- 651-658
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3372921
- OpenAlex
- W2065890382
- Cited by
- 589
- References
- 45
- Citations by year
- 2026: 19 · 2025: 15 · 2024: 29 · 2023: 40 · 2022: 37 · 2021: 50 · 2020: 41 · 2019: 52 · 2018: 50 · 2017: 50 · 2016: 50 · 2015: 43 · 2014: 47 · 2013: 45 · 2012: 21
- FWCI
- 16.57
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (acceptedVersion)
- National University of Singapore (submittedVersion)
- Deposito Adademico Digital Universidad De Navarra (University of Navarra) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (submittedVersion, public-domain)
- Rivm Repository (Netherlands National Institute for Public Health and the Environment) (submittedVersion)
- STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
- WOS
- Funders
- Cancer Research UK (14136)
- National Institutes of Health (HHSN261200800001C, Z99 CA999999)
- National Cancer Institute (R01CA127219, R01CA092447, R01CA144034, R01CA080205, HHSN261200800001E), R01CA098661, R01CA097193, P50CA102701, P30CA015704)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Keywords
- clonal mosaicism, aging, hematologic cancer, leukemia, solid tumors, aneuploidy, copy-neutral loss of heterozygosity, peripheral blood, buccal DNA, cancer risk, somatic evolution
- MeSH terms
- Aged, Aging, Chromosome Aberrations, Female, Humans, Male, Middle Aged, Mosaicism, Neoplasms, Risk
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