Evidence map›Paper›PMID 25748358›Full record

SynthesisAmerican journal of human genetics2015

Characterization of large structural genetic mosaicism in human autosomes.

Mitchell J Machiela, Weiyin Zhou, Joshua N Sampson, Michael C Dean, Kevin B Jacobs, Amanda Black, Louise A Brinton, I-Shou Chang, Chu Chen, Constance Chen and 189 more

Open access · bronzeAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers.

0numbers the graph read from it
0cells of the map it votes in
92citing papers in PubMed
9.1field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

92 citing papers in PubMed, 124 citations in OpenAlex.

  1. Trial
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  13. Social, Behavioral, and Clinical Risk Factors Are Associated with Clonal Hematopoiesis.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2024
    Article
  14. Review
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  16. Y Chromosome Loss and Implications for Oncology.Molecular cancer research : MCR · 2024
    Review
  17. Article
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  19. Article
  20. Article

32 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

199 authors at 20 institutions in 16 countries.

Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Weiyin ZhouDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
Joshua N SampsonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Michael C DeanLaboratory of Experimental Immunology, Center for Cancer Research, National Cancer Institute at Frederick, NIH, Frederick, MD 21702, USA.
Kevin B JacobsCancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA; BioInformed LLC, Gaithersburg, MD 20877, USA.
Amanda BlackDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Louise A BrintonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
I-Shou ChangNational Institute of Cancer Research, National Health Research Institutes, Zhunan 35053, Taiwan, ROC.
Chu ChenDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Constance ChenProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA.
Kexin ChenDepartment of Epidemiology and Biostatistics, Tianjin Medical University Cancer Institute and Hospital, Tianjin 300040, People's Republic of China.
Linda S CookUniversity of New Mexico, Albuquerque, NM 87131, USA.
Marta Crous BouProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Immaculata De VivoProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Jennifer DohertyGeisel School of Medicine, Dartmouth College, Lebanon, NH 03755, USA.
Christine M FriedenreichDepartment of Population Health Research, CancerControl Alberta, Alberta Health Services, Calgary, AB T2N 2T9, Canada.
Mia M GaudetEpidemiology Research Program, American Cancer Society, Atlanta, GA 30303, USA.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Susan E HankinsonChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Biostatistics and Epidemiology, School of Public Health and Health Sciences, University of Massachusetts Amherst, Amherst, MA 01003, USA.
Patricia HartgeDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Brian E HendersonDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Yun-Chul HongDepartment of Preventive Medicine, College of Medicine, Seoul National University, Seoul 151-742, Republic of Korea.
H Dean HosgoodDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Chao A HsiungInstitute of Population Health Sciences, National Health Research Institutes, Zhunan 35053, Taiwan, ROC.
Wei HuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
David J HunterProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Lea JessopDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Hee Nam KimCenter for Creative Biomedical Scientists, Chonnam National University, Gwangju 500-757, Republic of Korea.
Yeul Hong KimDivision of Oncology/Hematology, Department of Internal Medicine, College of Medicine, Korea University Anam Hospital, Seoul 151-742, Republic of Korea.
Young Tae KimDepartment of Thoracic and Cardiovascular Surgery, Cancer Research Institute, College of Medicine, Seoul National University, Seoul 151-742, Republic of Korea.
Robert KleinProgram in Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA.
Qing LanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Dongxin LinDepartment of Etiology & Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China; State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China.
Jianjun LiuDepartment of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore; School of Life Sciences, Anhui Medical University, Hefei 230032, People's Republic of China.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
Xiaolin LiangDepartment of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Jolanta LissowskaDepartment of Cancer Epidemiology and Prevention, Maria Sklodowska-Curie Cancer Center and Institute of Oncology, Warsaw 02-781, Poland.
Lingeng LuYale School of Public Health, New Haven, CT 06510, USA.
Anthony M MaglioccoH. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA.
Keitaro MatsuoDepartment of Preventive Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka 819-0395, Japan.
Sara H OlsonDepartment of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Irene OrlowDepartment of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Jae Yong ParkLung Cancer Center, Kyungpook National University Medical Center, Daegu 101, Republic of Korea.
Loreall PoolerDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90007, USA.
Jennifer PrescottProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Radhai RastogiDepartment of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Harvey A RischYale School of Public Health, New Haven, CT 06510, USA.
Fredrick SchumacherDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Adeline SeowSaw Swee Hock School of Public Health, National University of Singapore, Singapore 119077, Singapore.
Veronica Wendy SetiawanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Hongbing ShenJiangsu Key Laboratory of Cancer Biomarkers, Prevention, and Treatment, Nanjing Medical University, Nanjing 210029, People's Republic of China; Ministry of Education Key Laboratory of Modern Toxicology, Nanjing Medical University, Nanjing 210029, People's Republic of China.
Xin ShengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90007, USA.
Min-Ho ShinDepartment of Preventive Medicine, Chonnam National University Medical School, Gwanju 501-746, Republic of Korea.
Xiao-Ou ShuDepartment of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
David VanDen BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Jiu-Cun WangMinistry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China.
Nicolas WentzensenDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Maria Pik WongDepartment of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong SAR, People's Republic of China.
Chen WuDepartment of Etiology & Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China; State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China.
Tangchun WuInstitute of Occupational Medicine and Ministry of Education Key Laboratory for Environment and Health, School of Public Health, Huazhong University of Science and Technology, Wuhan 430400, People's Republic of China.
Yi-Long WuGuangdong Lung Cancer Institute, Guangdong General Hospital and Guangdong Academy of Medical Sciences, Guangzhou 515200, People's Republic of China.
Lucy XiaDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90007, USA.
Hannah P YangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Pan-Chyr YangDepartment of Internal Medicine, College of Medicine, National Taiwan University, Taipei 10617, Taiwan, ROC.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Baosen ZhouDepartment of Epidemiology, School of Public Health, China Medical University, Shenyang 110001, People's Republic of China.
Christian C AbnetDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Demetrius AlbanesDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Melinda C AldrichDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Department of Thoracic Surgery, School of Medicine, Vanderbilt University, Nashville, TN 37232, USA.
Christopher AmosDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Laufey T AmundadottirDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Sonja I BerndtDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
William J BlotDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA; International Epidemiology Institute, Rockville, MD 20850, USA.
Cathryn H BockKarmanos Cancer Institute and Department of Oncology, School of Medicine, Wayne State University, Detroit, MI 48201, USA.
Paige M BracciDepartment of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94143, USA.
Laurie BurdettDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
Julie E BuringDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Mary A ButlerNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, OH 45226, USA.
Tania CarreónNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, OH 45226, USA.
Nilanjan ChatterjeeDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Charles C ChungDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
Michael B CookDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Michael CullenDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
Faith G DavisDepartment of Public Health Sciences, School of Public Health, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Ti DingShanxi Cancer Hospital, Taiyuan, Shanxi 030013, People's Republic of China.
Eric J DuellUnit of Nutrition, Environment, and Cancer, Cancer Epidemiology Research Program, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute,, Barcelona 08908, Spain.
Caroline G EpsteinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Jin-Hu FanShanghai Cancer Institute, Shanghai 200032, People's Republic of China.
Jonine D FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Joseph F FraumeniDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Neal D FreedmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Charles S FuchsChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Renji Hospital, School of Medicine, Shanghai Jiaotaong University Shanghai 200032, People's Republic of China.
Susan M GapsturEpidemiology Research Program, American Cancer Society, Atlanta, GA 30303, USA.
Ana Patiño-GarciaDepartment of Pediatrics, University Clinic of Navarra, Universidad de Navarra, Pamplona 31080, Spain.
Montserrat Garcia-ClosasDivision of Genetics and Epidemiology and Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, Surrey SM2 5NG, UK.
J Michael GazianoDivisions of Preventive Medicine and Aging, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Massachusetts Veterans Epidemiology Research and Information Center and Cooperative Studies Programs, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA.
Graham G GilesCancer Epidemiology Centre, Cancer Council Victoria and Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
Elizabeth M GillandersDivision of Cancer Control and Population Sciences, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Edward L GiovannucciChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
Lynn GoldinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Alisa M GoldsteinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Mark H GreeneDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Goran HallmansNutritional Research Unit, Department of Public Health and Clinical Medicine, Umeå University, Umeå 901 87, Sweden.
Curtis C HarrisLaboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Roger HenrikssonDepartment of Oncology, Department of Radiation Sciences, Umeå University, Umeå 901 87, Sweden.
Elizabeth A HollyDepartment of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94143, USA.
Robert N HooverDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Nan HuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Amy HutchinsonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
Mazda JenabInternational Agency for Research on Cancer, Lyon 69372, France.
Christoffer JohansenDepartment of Oncology, Finsen Centre, Rigshospitalet, Copenhagen 2100, Denmark; Unit of Survivorship Research, Danish Cancer Society Research Centre, Copenhagen 2100, Denmark.
Kay-Tee KhawSchool of Clinical Medicine, University of Cambridge, Cambridge CB2 1TN, UK.
Woon-Puay KohSaw Swee Hock School of Public Health, National University of Singapore, Singapore 119077, Singapore; Duke-NUS Graduate Medical School, Singapore 169857, Singapore.
Laurence N KolonelEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Vittorio KroghFondazione IRCCS Istituto Nazionale dei Tumori, Milano 20133, Italy.
Robert C KurtzDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Andrea LaCroixDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Annelie LandgrenDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Maria Teresa LandiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Donghui LiDepartment of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Linda M LiaoDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Nuria MalatsSpanish National Cancer Research Centre, Madrid 28029, Spain.
Katherine A McGlynnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Lorna H McNeillDepartment of Health Disparities Research, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA; Center for Community-Engaged Translational Research, Duncan Family Institute, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Robert R McWilliamsDepartment of Oncology, Mayo Clinic, Rochester, MN 55905, USA.
Beatrice S MelinDepartment of Oncology, Department of Radiation Sciences, Umeå University, Umeå 901 87, Sweden.
Lisa MirabelloDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Beata PeplonskaNofer Institute of Occupational Medicine, Lodz 91-348, Poland.
Ulrike PetersDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Gloria M PetersenDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Ludmila Prokunina-OlssonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Mark PurdueDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
You-Lin QiaoDepartment of Epidemiology, Cancer Institute, Chinese Academy of Medical Sciences, Beijing 100730, People's Republic of China.
Kari G RabeDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Preetha RajaramanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Francisco X RealSpanish National Cancer Research Centre, Madrid 28029, Spain; Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain.
Elio RiboliDivision of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2AZ, UK.
Benjamín Rodríguez-SantiagoDepartament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona 08003, Spain; Quantitative Genomic Medicine Laboratory, qGenomics, Barcelona 08003, Spain.
Nathaniel RothmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Avima M RuderNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, OH 45226, USA.
Sharon A SavageDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Ann G SchwartzKarmanos Cancer Institute and Department of Oncology, School of Medicine, Wayne State University, Detroit, MI 48201, USA.
Kendra L SchwartzKarmanos Cancer Institute and Department of Family Medicine and Public Health Sciences, School of Medicine, Wayne State University, Detroit, MI 48201, USA.
Howard D SessoDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Gianluca SeveriCancer Epidemiology Centre, Cancer Council Victoria and Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia; Human Genetics Foundation, Torino 10126, Italy.
Debra T SilvermanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Margaret R SpitzBaylor College of Medicine, Houston, TX 77030, USA.
Victoria L StevensEpidemiology Research Program, American Cancer Society, Atlanta, GA 30303, USA.
Rachael Stolzenberg-SolomonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Daniel StramDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Ze-Zhong TangShanxi Cancer Hospital, Taiyuan, Shanxi 030013, People's Republic of China.
Philip R TaylorDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Lauren R TerasEpidemiology Research Program, American Cancer Society, Atlanta, GA 30303, USA.
Geoffrey S TobiasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Kala ViswanathanDepartment of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21218, USA.
Sholom WacholderDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Zhaoming WangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
Stephanie J WeinsteinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
William WheelerInformation Management Services Inc., Calverton, MD 20904, USA.
Emily WhiteDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
John K WienckeUniversity of California, San Francisco, San Francisco, CA 94143, USA.
Brian M WolpinChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Xifeng WuDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Jay S WunderDivision of Urologic Surgery, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA.
Kai YuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Krista A ZanettiDivision of Cancer Control and Population Sciences, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Anne Zeleniuch-JacquotteDepartment of Population Health, School of Medicine, New York University, New York, NY 10016, USA; Perlmutter Cancer Institute, New York University, New York, NY 10016, USA.
Regina G ZieglerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Mariza de AndradeDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Kathleen C BarnesSchool of Medicine, Johns Hopkins University, Baltimore, MD 21218, USA.
Terri H BeatyDepartment of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21218, USA.
Laura J BierutDepartment of Psychiatry, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA.
Karl C DeschDepartment of Pediatrics and Communicable Diseases, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, MI 48109, USA.
Kimberly F DohenyCenter for Inherited Disease Research, Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21218, USA.
Bjarke FeenstraDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen 2300, Denmark.
David GinsburgHoward Hughes Medical Institute and Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
John A HeitDepartment of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Jae H KangChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Cecilia A LaurieDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Jun Z LiDepartment of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
William L LoweDivision of Endocrinology, Metabolism, and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60208, USA.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral Biology School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15260, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15260, USA.
Mads MelbyeDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen 2300, Denmark; Department of Medicine, School of Medicine, Stanford University, Stanford, CA 94305, USA.
Daniel B MirelBroad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Jeffrey C MurrayDepartment of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.
Sarah C NelsonDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Louis R PasqualeChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard University, Boston, MA 02114, USA.
Kenneth RiceDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Janey L WiggsDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard University, Boston, MA 02114, USA.
Anastasia WiseOffice of Population Genomics, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Margaret TuckerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Luis A Pérez-JuradoDepartament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona 08003, Spain; Hospital del Mar Research Institute, Barcelona 08003, Spain.
Cathy C LaurieDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Neil E CaporasoDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Meredith YeagerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address: chanocks@mail.nih.gov.
National Cancer Institute · USBrigham and Women's Hospital · USUniversity of Southern California · USLeidos (United States) · USMemorial Sloan Kettering Cancer Center · USAmerican Cancer Society · USFred Hutch Cancer Center · USJohns Hopkins University · USThe University of Texas MD Anderson Cancer Center · USUniversity of Washington · USCenters for Disease Control and Prevention · USChinese Academy of Medical Sciences & Peking Union Medical College · CNHarvard University · USMayo Clinic in Florida · USSeoul National University · KRUmeå University · SEUniversitat Pompeu Fabra · ESUniversity of California, San Francisco · USWayne State University · USBroad Institute · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Fred W Kolling IV · 1985 to 2026
$91.3M
Laboratory of Translational GenomicsZIACP010201 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI PROKUNINA-OLSSON, LIUDMILA · 2010 to 2025
$91.2M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8M
Southern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0M
Psychosocial Influences on Rural Children's Oral HealthR01DE014899 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI FOXMAN, BETSY, MARAZITA, MARY L. · 2002 to 2020
$39.9M
Tissue CoreP50CA102701 · NCI · MAYO CLINIC ROCHESTER · PI MUKHOPADHYAY, DEBABRATA · 2004 to 2018
$32.7M
Precision Medicine of CancerZIABC011492 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI HARRIS, CURTIS · 2013 to 2025
$23.2M
Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1M
Integrative Molecular Epidemiology of Human CancerZIABC011495 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI HARRIS, CURTIS · 2013 to 2019
$9.5M
Gene-Environment Interactions in GlaucomaR01EY015473 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2005 to 2021
$8.3M
Medical Research Council G0401527Medical Research Council G1000143NCI NIH HHS K05 CA154337NCI NIH HHS K07 CA172294NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA023108NCI NIH HHS P50 CA102701NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA124908NCI NIH HHS R25 CA174664NCI NIH HHS UM1 CA182910NCI NIH HHS UM1 CA182934NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY022305NHLBI NIH HHS R01 HL039693NHLBI NIH HHS R01 HL112642NIDCR NIH HHS R01 DE014899NIDCR NIH HHS R01 DE016148World Health Organization 001
6 · The paper itself

Abstract

Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 × 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.

Indexed as

Chromosome AberrationsGenome, HumanMosaicismAgedFemaleGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNeoplasms

Identifiers

PMID25748358
PMCPMC4375431
OpenAlexW2089091170

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