Evidence map›Paper›PMID 27291797›Full record

ArticleNature communications2016

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

Mitchell J Machiela, Weiyin Zhou, Eric Karlins, Joshua N Sampson, Neal D Freedman, Qi Yang, Belynda Hicks, Casey Dagnall, Christopher Hautman, Kevin B Jacobs and 166 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

86 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026
    Article
  5. Article
  6. Review
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  10. Review
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  15. Review
  16. Article
  17. Review
  18. C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.Journal of inherited metabolic disease · 2025
    Article
  19. Exploring genome-transcriptome correlations in cancer.Biochemical Society transactions · 2025
    Review
  20. Integrated multiomic analyses: An approach to improve understanding of diabetic kidney disease.Diabetic medicine : a journal of the British Diabetic Association · 2025
    Review

26 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

176 authors.

Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.ORCID 0000-0001-6538-9705
Weiyin ZhouDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Eric KarlinsDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Joshua N SampsonDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Neal D FreedmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Qi YangDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Belynda HicksDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.ORCID 0000-0001-8014-4888
Casey DagnallDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.ORCID 0000-0001-7334-4718
Christopher HautmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Kevin B JacobsCancer Genomics Research Laboratory, National Cancer Institute, Division of Cancer Epidemiology and Genetics, Leidos Biomedical Research Inc., Bethesda, Maryland 20892, USA.
Christian C AbnetDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Melinda C AldrichDepartment of Thoracic Surgery, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
Christopher AmosDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Laufey T AmundadottirDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Alan A ArslanDepartment of Obstetrics and Gynecology, New York University School of Medicine, New York, New York 10016, USA.
Laura E Beane-FreemanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Sonja I BerndtDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Amanda BlackDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
William J BlotDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.
Cathryn H BockKarmanos Cancer Institute and Department of Oncology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.
Paige M BracciDepartment of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, California 94143, USA.
Louise A BrintonDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
H Bas Bueno-de-MesquitaDepartment for Determinants of Chronic Diseases (DCD), National Institute for Public Health and the Environment (RIVM), 3721 Bilthoven, The Netherlands.
Laurie BurdettDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Julie E BuringDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Mary A ButlerNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, Ohio 45226, USA.
Federico CanzianDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-4261-4583
Tania CarreónNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, Ohio 45226, USA.
Kari G ChaffeeDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.ORCID 0000-0002-7313-1875
I-Shou ChangNational Institute of Cancer Research, National Health Research Institutes, Zhunan 35053, Taiwan.
Nilanjan ChatterjeeDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Chu ChenDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Constance ChenProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Kexin ChenDepartment of Epidemiology and Biostatistics, Tianjin Medical University Cancer Institute and Hospital, Tianjin 300040, China.
Charles C ChungDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Linda S CookUniversity of New Mexico, Albuquerque, New Mexico 87131, USA.
Marta Crous BouProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Michael CullenDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Faith G DavisDepartment of Public Health Sciences, School of Public Health, University of Alberta, Edmonton, Alberta, Canada T6G 2R3.
Immaculata De VivoProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Ti DingShanxi Cancer Hospital, Taiyuan, Shanxi 030013, China.
Jennifer DohertyGeisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03755, USA.
Eric J DuellUnit of Nutrition and Cancer, Cancer Epidemiology Research Program, Bellvitge Biomedical Research Institute, Catalan Institute of Oncology (ICO-IDIBELL), 08908 Barcelona, Spain.
Caroline G EpsteinDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Jin-Hu FanShanghai Cancer Institute, Shanghai 200032, China.
Jonine D FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Joseph F FraumeniDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Christine M FriedenreichDepartment of Population Health Research, Cancer Control Alberta, Alberta Health Services, Calgary, Alberta, Canada T2N 2T9.
Charles S FuchsChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
Steven GallingerFred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Ontario, Canada M5G 1X5.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotaong University School of Medicine, Shanghai 200032, China.
Susan M GapsturEpidemiology Research Program, American Cancer Society, Atlanta, Georgia 30303, USA.
Montserrat Garcia-ClosasDivision of Genetics and Epidemiology, and Breakthrough Breast Cancer Centre, Institute for Cancer Research, London SM2 5NG, UK.
Mia M GaudetEpidemiology Research Program, American Cancer Society, Atlanta, Georgia 30303, USA.
J Michael GazianoDivisions of Preventive Medicine and Aging, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
Graham G GilesCancer Epidemiology Centre, Cancer Council Victoria &Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria 3010, Australia.
Elizabeth M GillandersDivision of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland 20892, USA.
Edward L GiovannucciChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
Lynn GoldinDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Alisa M GoldsteinDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Christopher A HaimanDepartment of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern California, Los Angeles, California 90033, USA.
Goran HallmansDepartment of Public Health and Clinical Medicine/Nutritional Research, Umeå University, 901 87 Umeå, Sweden.
Susan E HankinsonChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
Curtis C HarrisLaboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Roger HenrikssonDepartment of Radiation Sciences, Oncology, Umeå University, 901 87 Umeå, Sweden.
Elizabeth A HollyDepartment of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, California 94143, USA.
Yun-Chul HongDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul 151-742, Republic of Korea.
Robert N HooverDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Chao A HsiungInstitute of Population Health Sciences, National Health Research Institutes, Zhunan 35053, Taiwan.
Nan HuDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Wei HuDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
David J HunterProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Amy HutchinsonDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Mazda JenabInternational Agency for Research on Cancer (IARC-WHO), 69372 Lyon, France.
Christoffer JohansenOncology, Finsen Centre, Rigshospitalet, 2100 Copenhagen, Denmark.
Kay-Tee KhawSchool of Clinical Medicine, University of Cambridge, Cambridge CB2 1TN, UK.
Hee Nam KimCenter for Creative Biomedical Scientists, Chonnam National University, Gwangju 500-757, Republic of Korea.
Yeul Hong KimDepartment of Internal Medicine, Division of Oncology/Hematology, College of Medicine, Korea University Anam Hospital, Seoul 151-742, Republic of Korea.
Young Tae KimDepartment of Thoracic and Cardiovascular Surgery, Cancer Research Institute, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Alison P KleinDepartment of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Robert KleinProgram in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York, 10065, USA.
Woon-Puay KohDuke-NUS Graduate Medical School, Singapore 169857, Singapore.
Laurence N KolonelEpidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii 96813, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Vittorio KroghFondazione IRCCS Istituto Nazionale dei Tumori, Milano 20133, Italy.
Robert C KurtzDepartment of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York 10065, USA.
Andrea LaCroixDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Qing LanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Maria Teresa LandiDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii 96813, USA.
Donghui LiDepartment of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Xiaolin LiangMemorial Sloan-Kettering Cancer Center, New York, New York 10065, USA.
Linda M LiaoDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Dongxin LinDepartment of Etiology &Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Jianjun LiuDepartment of Human Genetics, Genome Institute of Singapore 138672, Singapore.
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, Connecticut 06510, USA.
Anthony M MaglioccoH. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612, USA.
Nuria MalatsSpanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.
Keitaro MatsuoDivision of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan.ORCID 0000-0003-1761-6314
Lorna H McNeillDepartment of Health Disparities Research, Division of OVP, Cancer Prevention and Population Sciences, and Center for Community-Engaged Translational Research, Duncan Family Institute, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Robert R McWilliamsDepartment of Oncology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Beatrice S MelinDepartment of Radiation Sciences, Oncology, Umeå University, 901 87 Umeå, Sweden.
Lisa MirabelloDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Lee MooreDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Sara H OlsonMemorial Sloan-Kettering Cancer Center, New York, New York 10065, USA.
Irene OrlowMemorial Sloan-Kettering Cancer Center, New York, New York 10065, USA.
Jae Yong ParkLung Cancer Center, Kyungpook National University Medical Center, Daegu 101, Republic of Korea.
Ana Patiño-GarciaDepartment of Pediatrics, University Clinic of Navarra, Universidad de Navarra, IdiSNA, Navarra Institute for Health Research, Pamplona 31080, Spain.
Beata PeplonskaNofer Institute of Occupational Medicine, Lodz 91-348, Poland.
Ulrike PetersDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Gloria M PetersenDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Loreall PoolerUniversity of Southern California, Los Angeles, California 90007, USA.
Jennifer PrescottProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Ludmila Prokunina-OlssonDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Mark P PurdueDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
You-Lin QiaoDepartment of Epidemiology, Cancer Institute (Hospital), Chinese Academy of Medical Sciences, Beijing 100730, China.
Preetha RajaramanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Francisco X RealSpanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.
Elio RiboliDivision of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2AZ, UK.
Harvey A RischYale School of Public Health, New Haven, Connecticut 06510, USA.
Benjamin Rodriguez-SantiagoDepartament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08002, Spain.
Avima M RuderNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, Ohio 45226, USA.
Sharon A SavageDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.ORCID 0000-0001-6006-0740
Fredrick SchumacherDepartment of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern California, Los Angeles, California 90033, USA.
Ann G SchwartzKarmanos Cancer Institute and Department of Oncology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.
Kendra L SchwartzKarmanos Cancer Institute and Department of Family Medicine and Public Health Sciences, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.
Adeline SeowSaw Swee Hock School of Public Health, National University of Singapore, Singapore 119077, Singapore.
Veronica Wendy SetiawanDepartment of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern California, Los Angeles, California 90033, USA.
Gianluca SeveriCancer Epidemiology Centre, Cancer Council Victoria &Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria 3010, Australia.
Hongbing ShenJiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Nanjing Medical University, Nanjing 210029, China.
Xin ShengUniversity of Southern California, Los Angeles, California 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, Tennessee 37232, USA.
Debra T SilvermanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Margaret R SpitzBaylor College of Medicine, Houston, Texas 77030, USA.
Victoria L StevensEpidemiology Research Program, American Cancer Society, Atlanta, Georgia 30303, USA.
Rachael Stolzenberg-SolomonDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Daniel StramDepartment of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern California, Los Angeles, California 90033, USA.ORCID 0000-0001-7099-9022
Ze-Zhong TangShanxi Cancer Hospital, Taiyuan, Shanxi 030013, China.
Philip R TaylorDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Lauren R TerasEpidemiology Research Program, American Cancer Society, Atlanta, Georgia 30303, USA.
Geoffrey S TobiasDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
David Van Den BergDepartment of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern California, Los Angeles, California 90033, USA.
Kala VisvanathanJohns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21218, USA.
Sholom WacholderDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Jiu-Cun WangMinistry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, China.
Zhaoming WangDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Nicolas WentzensenDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
William WheelerInformation Management Services Inc., Calverton, Maryland, 20904, USA.
Emily WhiteDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
John K WienckeUniversity of California San Francisco, San Francisco, California 94143, USA.
Brian M WolpinChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
Maria Pik WongDepartment of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Chen WuDepartment of Etiology &Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, 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, China.
Xifeng WuDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Yi-Long WuGuangdong Lung Cancer Institute, Guangdong General Hospital &Guangdong Academy of Medical Sciences, Guangzhou 515200, China.
Jay S WunderGuangdong Lung Cancer Institute, Guangdong General Hospital &Guangdong Academy of Medical Sciences, Guangzhou 515200, China.
Lucy XiaUniversity of Southern California, Los Angeles, California 90007, USA.
Hannah P YangDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Pan-Chyr YangDivision of Urologic Surgery, Washington University School of Medicine, St Louis, Missouri 63110, USA.
Kai YuDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Krista A ZanettiDivision of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland 20892, USA.
Anne Zeleniuch-JacquotteNew York University Cancer Institute, New York, New York 10016, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.
Baosen ZhouDepartment of Epidemiology, School of Public Health, China Medical University, Shenyang 110001, China.
Regina G ZieglerDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Luis A Perez-JuradoDepartament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08002, Spain.ORCID 0000-0002-1988-3005
Neil E CaporasoDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Nathaniel RothmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Margaret TuckerDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Michael C DeanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Meredith YeagerDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8M
Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Steven D Leach · 1985 to 2026
$91.3M
Yale Pathology Tissue Services Shared ResourceP30CA016359 · NCI · YALE UNIVERSITY · PI DAVID L RIMM · 1985 to 2026
$85.0M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 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
Tumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI LENNON, ANNE MARIE · 1993 to 2022
$54.6M
Understanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4M
Targeting Ral GTPases in Bladder CancerP50CA091846 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI DINNEY, COLIN P.N., MCCONKEY, DAVID J. · 2001 to 2018
$37.4M
Tissue CoreP50CA102701 · NCI · MAYO CLINIC ROCHESTER · PI PETERSEN, GLORIA M. · 2004 to 2018
$32.7M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
UT M.D. Anderson Cancer Center SPORE in MelanomaP50CA093459 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI GRIMM, ELIZABETH A · 2004 to 2014
$23.7M
Cancer Research UK 14136Intramural NIH HHS Z01 CP010200Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MR/N003284/1NCI NIH HHS K05 CA092002NCI NIH HHS K07 CA172294NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016359NCI NIH HHS P30 CA016672NCI NIH HHS P30 CA023108NCI NIH HHS P50 CA062924NCI NIH HHS P50 CA091846NCI NIH HHS P50 CA093459NCI NIH HHS P50 CA102701NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA055069NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA080205NCI NIH HHS R01 CA087538NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA100264NCI NIH HHS R01 CA105212NCI NIH HHS R01 CA121210NCI NIH HHS R01 CA134958NCI NIH HHS R01 CA144034NCI NIH HHS R01 CA154823NCI NIH HHS R03 CA080636NCI NIH HHS R35 CA053890NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA070867NCI NIH HHS RC2 CA148085NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA164973NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA182910NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004446NHGRI NIH HHS U01 HG004726NHGRI NIH HHS U01 HG004738NHLBI NIH HHS HHSN268201100001INHLBI NIH HHS HHSN268201100002INHLBI NIH HHS HHSN268201100004INHLBI NIH HHS HHSN268201100046CNIA NIH HHS HHSN271201100004CNICHD NIH HHS N01 HD023166NIGMS NIH HHS P01 GM099568WHI NIH HHS HHSN268201100001CWHI NIH HHS HHSN268201100002CWHI NIH HHS HHSN268201100003CWHI NIH HHS HHSN268201100004CWorld Health Organization 001
6 · The paper itself

Abstract

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.

Indexed as

MosaicismAgingChromosomes, Human, XDNA MethylationFemaleHumansMalePolymerase Chain ReactionReproducibility of ResultsX Chromosome Inactivation

Identifiers

PMID27291797
PMCPMC4909985

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