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dc.contributor.authorMachiela, Mitchell J
dc.contributor.authorZhou, Weiyin
dc.contributor.authorKarlins, Eric
dc.contributor.authorSampson, Joshua N
dc.contributor.authorFreedman, Neal D
dc.contributor.authorYang, Qi
dc.contributor.authorHicks, Belynda
dc.contributor.authorDagnall, Casey
dc.contributor.authorHautman, Christopher
dc.contributor.authorJacobs, Kevin B
dc.contributor.authorAbnet, Christian C
dc.contributor.authorAldrich, Melinda C
dc.contributor.authorAmos, Christopher
dc.contributor.authorAmundadottir, Laufey T
dc.contributor.authorArslan, Alan A
dc.contributor.authorBeane-Freeman, Laura E
dc.contributor.authorBerndt, Sonja I
dc.contributor.authorBlack, Amanda
dc.contributor.authorBlot, William J
dc.contributor.authorBock, Cathryn H
dc.contributor.authorBracci, Paige M
dc.contributor.authorBrinton, Louise A
dc.contributor.authorBueno-de-Mesquita, H Bas
dc.contributor.authorBurdett, Laurie
dc.contributor.authorBuring, Julie E
dc.contributor.authorButler, Mary A
dc.contributor.authorCanzian, Federico
dc.contributor.authorCarreón, Tania
dc.contributor.authorChaffee, Kari G
dc.contributor.authorChang, I-Shou
dc.contributor.authorChatterjee, Nilanjan
dc.contributor.authorChen, Chu
dc.contributor.authorChen, Constance
dc.contributor.authorChen, Kexin
dc.contributor.authorChung, Charles C
dc.contributor.authorCook, Linda S
dc.contributor.authorCrous Bou, Marta
dc.contributor.authorCullen, Michael
dc.contributor.authorDavis, Faith G
dc.contributor.authorDe Vivo, Immaculata
dc.contributor.authorDing, Ti
dc.contributor.authorDoherty, Jennifer
dc.contributor.authorDuell, Eric J
dc.contributor.authorEpstein, Caroline G
dc.contributor.authorFan, Jin-Hu
dc.contributor.authorFigueroa, Jonine D
dc.contributor.authorFraumeni, Joseph F
dc.contributor.authorFriedenreich, Christine M
dc.contributor.authorFuchs, Charles S
dc.contributor.authorGallinger, Steven
dc.contributor.authorGao, Yu-Tang
dc.contributor.authorGapstur, Susan M
dc.contributor.authorGarcia-Closas, Montserrat
dc.contributor.authorGaudet, Mia M
dc.contributor.authorGaziano, J Michael
dc.contributor.authorGiles, Graham G
dc.contributor.authorGillanders, Elizabeth M
dc.contributor.authorGiovannucci, Edward L
dc.contributor.authorGoldin, Lynn
dc.contributor.authorGoldstein, Alisa M
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorHallmans, Goran
dc.contributor.authorHankinson, Susan E
dc.contributor.authorHarris, Curtis C
dc.contributor.authorHenriksson, Roger
dc.contributor.authorHolly, Elizabeth A
dc.contributor.authorHong, Yun-Chul
dc.contributor.authorHoover, Robert N
dc.contributor.authorHsiung, Chao A
dc.contributor.authorHu, Nan
dc.contributor.authorHu, Wei
dc.contributor.authorHunter, David J
dc.contributor.authorHutchinson, Amy
dc.contributor.authorJenab, Mazda
dc.contributor.authorJohansen, Christoffer
dc.contributor.authorKhaw, Kay-Tee
dc.contributor.authorKim, Hee Nam
dc.contributor.authorKim, Yeul Hong
dc.contributor.authorKim, Young Tae
dc.contributor.authorKlein, Alison P
dc.contributor.authorKlein, Robert
dc.contributor.authorKoh, Woon-Puay
dc.contributor.authorKolonel, Laurence N
dc.contributor.authorKooperberg, Charles
dc.contributor.authorKraft, Peter
dc.contributor.authorKrogh, Vittorio
dc.contributor.authorKurtz, Robert C
dc.contributor.authorLaCroix, Andrea
dc.contributor.authorLan, Qing
dc.contributor.authorLandi, Maria Teresa
dc.contributor.authorMarchand, Loic Le
dc.contributor.authorLi, Donghui
dc.contributor.authorLiang, Xiaolin
dc.contributor.authorLiao, Linda M
dc.contributor.authorLin, Dongxin
dc.contributor.authorLiu, Jianjun
dc.contributor.authorLissowska, Jolanta
dc.contributor.authorLu, Lingeng
dc.contributor.authorMagliocco, Anthony M
dc.contributor.authorMalats, Nuria 
dc.contributor.authorMatsuo, Keitaro
dc.contributor.authorMcNeill, Lorna H
dc.contributor.authorMcWilliams, Robert R
dc.contributor.authorMelin, Beatrice S
dc.contributor.authorMirabello, Lisa
dc.contributor.authorMoore, Lee
dc.contributor.authorOlson, Sara H
dc.contributor.authorOrlow, Irene
dc.contributor.authorPark, Jae Yong
dc.contributor.authorPatiño-Garcia, Ana
dc.contributor.authorPeplonska, Beata
dc.contributor.authorPeters, Ulrike
dc.contributor.authorPetersen, Gloria M
dc.contributor.authorPooler, Loreall
dc.contributor.authorPrescott, Jennifer
dc.contributor.authorProkunina-Olsson, Ludmila
dc.contributor.authorPurdue, Mark P
dc.contributor.authorQiao, You-Lin
dc.contributor.authorRajaraman, Preetha
dc.contributor.authorReal Arribas, Francisco 
dc.contributor.authorRiboli, Elio
dc.contributor.authorRisch, Harvey A
dc.contributor.authorRodriguez-Santiago, Benjamin
dc.contributor.authorRuder, Avima M
dc.contributor.authorSavage, Sharon A
dc.contributor.authorSchumacher, Fredrick
dc.contributor.authorSchwartz, Ann G
dc.contributor.authorSchwartz, Kendra L
dc.contributor.authorSeow, Adeline
dc.contributor.authorWendy Setiawan, Veronica
dc.contributor.authorSeveri, Gianluca
dc.contributor.authorShen, Hongbing
dc.contributor.authorSheng, Xin
dc.contributor.authorShin, Min-Ho
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorSilverman, Debra T
dc.contributor.authorSpitz, Margaret R
dc.contributor.authorStevens, Victoria L
dc.contributor.authorStolzenberg-Solomon, Rachael
dc.contributor.authorStram, Daniel
dc.contributor.authorTang, Ze-Zhong
dc.contributor.authorTaylor, Philip R
dc.contributor.authorTeras, Lauren R
dc.contributor.authorTobias, Geoffrey S
dc.contributor.authorVan Den Berg, David
dc.contributor.authorVisvanathan, Kala
dc.contributor.authorWacholder, Sholom
dc.contributor.authorWang, Jiu-Cun
dc.contributor.authorWang, Zhaoming
dc.contributor.authorWentzensen, Nicolas
dc.contributor.authorWheeler, William
dc.contributor.authorWhite, Emily
dc.contributor.authorWiencke, John K
dc.contributor.authorWolpin, Brian M
dc.contributor.authorWong, Maria Pik
dc.contributor.authorWu, Chen
dc.contributor.authorWu, Tangchun
dc.contributor.authorWu, Xifeng
dc.contributor.authorWu, Yi-Long
dc.contributor.authorWunder, Jay S
dc.contributor.authorXia, Lucy
dc.contributor.authorYang, Hannah P
dc.contributor.authorYang, Pan-Chyr
dc.contributor.authorYu, Kai
dc.contributor.authorZanetti, Krista A
dc.contributor.authorZeleniuch-Jacquotte, Anne
dc.contributor.authorZheng, Wei
dc.contributor.authorZhou, Baosen
dc.contributor.authorZiegler, Regina G
dc.contributor.authorPerez-Jurado, Luis A
dc.contributor.authorCaporaso, Neil E
dc.contributor.authorRothman, Nathaniel
dc.contributor.authorTucker, Margaret
dc.contributor.authorDean, Michael C
dc.contributor.authorYeager, Meredith
dc.contributor.authorChanock, Stephen J
dc.date.accessioned2019-07-09T11:13:36Z
dc.date.available2019-07-09T11:13:36Z
dc.date.issued2016
dc.identifier.citationNat Commun. 2016;7:11843.es_ES
dc.identifier.issn2041-1723es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7874
dc.description.abstractTo 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.es_ES
dc.description.sponsorshipSome individuals, studies, and centers received individual support as follows: Broad Center for Genotyping and Analysis (U01HG04424); Cancer Prevention Study-II (American Cancer Society); Center for Inherited Disease Research (U01HG004438, HHSN268200782096C); Endometrial cancer (R01 CA 134958); Fred Hutchinson Cancer Research Center (funds from the Fred Hutchinson Cancer Research Center and National Institute of Health grants (R35 CA 39779, RO1 CA 75977, RO3 CA 80636, N01 HD 2 3166, K05 CA 92002, CA 105212 and R01 CA87538)); Fudan Lung Cancer Study (Ministry of Health (201002007); Ministry of Science and Technology (2011BAI09B00); National S&T Major Special Project (2011ZX09102-010-01); China National High-Tech Research and Development Program (2012AA02A517, 2012AA02A518); National Science Foundation of China (30890034); National Basic Research Program (2012CB944600); Scientific and Technological Support Plans from Jiangsu Province (BE2010715)); Gene-Environment Association Studies (Coordinating Center:U01 HG004446, Manuscript preparation: P01-GM099568); Genes and Environment in Lung Cancer, Singapore Study (National Medical Research Council Singapore grant (NMRC/0897/2004, NMRC/1075/2006); Agency for Science, Technology and Research (A*STAR) of Singapore); Genetic Epidemiological Study of Lung Adenocarcinoma (National Research Program on Genomic Medicine in Taiwan (DOH98-TD-G-111-015); National Research Program for Biopharmaceuticals in Taiwan (DOH 100-TD-PB-111- TM013); National Science Council, Taiwan (NSC 100-2319-B-400-001)); Guangdong Study (Foundation of Guangdong Science and Technology Department (2006B60101010, 2007A032000002, 2011A030400010); Guangzhou Science and Information Technology Bureau (2011Y2-00014); Chinese Lung Cancer Research Foundation; National Natural Science Foundation of China (81101549); Natural Science Foundation of Guangdong Province (S2011010000792)); Hong Kong Study (General Research Fund of Research Grant Council, Hong Kong (781511M)); Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH; Intramural Research Program of the NIH, National Library of Medicine; Intramural Research Program of the National Institute for Occupational Safety and Health; Japanese Female Lung Cancer Collaborative Study (Grants-in-Aid from the Ministry of Health, Labor, and Welfare for Research on Applying Health Technology and for the 3rd-term Comprehensive 10-year Strategy for Cancer Control; National Cancer Center Research and Development Fund; Grant-in-Aid for Scientific Research on Priority Areas and on Innovative Area from the Ministry of Education, Science, Sports, Culture and Technology of Japan; NCI (R01-CA121210)); Korea Health Technology R&D Project (Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (HI14C0066 )); Lung cancer (Z01CP010200); Lung health (U01HG004738); Ministry of Health (201002007); Ministry of Science and Technology (2011BAI09B00); Melanoma (NCI R29CA70334, R01CA100264, P50CA093459); Multiethnic Cohort Study (Infrastructure grant (U01 CA164973) and U01 CA098758); National Research Foundation of Korea (NRF) (funded by the Korea government (MSIP) (NRF-2014R1A2A2A05003665)); NLCS (China National High-Tech Research and Development Program Grant (2009AA022705); Priority Academic Program Development of Jiangsu Higher Education Institution; National Key Basic Research Program Grant (2011CB503805)); Nurses’ Health Study (P01 CA87969, R01 CA49449); Nurses’ Health Study II (UM1 CA176726, R01 67262); OpPancreatic cancer (Mayo Clinic SPORE in Pancreatic Cancer: P50CA102701); Prostate cancer (U01HG004726, NCI: CA63464, CA54281, CA1326792, RC2 CA148085); Shanghai Women’s Health Cohort Study (National Institutes of Health (R37 CA70867); National Cancer Institute intramural research program; NCI Intramural Research Program contract (N02 CP1101066)); Shenyang Lung Cancer Study (National Nature Science Foundation of China (81102194); Liaoning Provincial Department of Education (LS2010168); China Medical Board (00726)); Singapore Chinese Health Study (NIH grants: NCI R01 CA55069, R35 CA53890, R01 CA80205, and R01 CA144034); South Korea Multi-Center Lung Cancer Study (National Research Foundation of Korea (NRF) grant funded by the Korea government (MEST) (2011-0016106); National R&D Program for Cancer Control, Ministry of Health &Welfare, Republic of Korea (0720550-2); (A010250)); Tianjin Lung Cancer Study (Program for Changjiang Scholars and Innovative Research Team in University (PCSIRT); China (IRT1076), Tianjin Cancer Institute and Hospital, National Foundation for Cancer Research US); University of Texas MD Anderson Cancer Center (institutional support for the Center for Translational and Public Health Genomics (NIH grant P50 CA 91846)); Women’s Health Initiative (National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services contracts HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C); Wuhan lung cancer study (National Key Basic Research and Development Program (2011CB503800)) and Yunnan Lung Cancer Study (Intramural program of U.S. National Institutes of Health; National Cancer Institute). Melinda C. Aldrich was supported by NIH/NCI grant K07 CA 172294. We would like to thank the participants and staff of the NHS and NHSII cohorts for their valuable contributions as well as the following state registries for their help: AL, AZ, AR, CA, CO, CT, DE, FL, GA, ID, IL, IN, IA, KY, LA, ME, MD, MA, MI, NE, NH, NJ, NY, NC, ND, OH, OK, OR, PA, RI, SC, TN, TX, VA, WA, WY. This study was approved by the Connecticut Department of Public Health (DPH) Human Investigations Committee. Certain data used in this publication were obtained from the DPH. The authors assume full responsibility for the analyses and interpretation of these data. The Women’s Health Initiative would like to acknowledge the following individuals for their participation: Program Office: (National Heart, Lung,and Blood Institute, Bethesda, Maryland) Jacques Rossouw, Shari Ludlam, Dale Burwen, Joan McGowan, Leslie Ford, and Nancy Geller; Clinical Coordinating Center: (Fred Hutchinson Cancer Research Center, Seattle, WA) Garnet Anderson, Ross Prentice, Andrea LaCroix, and Charles Kooperberg; Investigators and Academic Centers: (Brigham and Women’s Hospital, Harvard Medical School, Boston, MA) JoAnn E. Manson; (MedStar Health Research Institute/Howard University, Washington, DC) Barbara V. Howard; (Stanford Prevention Research Center, Stanford, CA). Marcia L. Stefanick; (The Ohio State University, Columbus, OH) Rebecca Jackson; (University of Arizona, Tucson/Phoenix, AZ) Cynthia A. Thomson; (University at Buffalo, Buffalo, NY) Jean Wactawski-Wende; (University of Florida, Gainesville/Jacksonville, FL) Marian Limacher; (University of Iowa, Iowa City/Davenport, IA) Robert Wallace; (University of Pittsburgh, Pittsburgh, PA) Lewis Kuller; (Wake Forest University School of Medicine, Winston-Salem, NC) Sally Shumaker. Women’s Health Initiative Memory Study: (Wake Forest University School of Medicine, Winston-Salem, NC) Sally Shumaker.es_ES
dc.language.isoenges_ES
dc.publisherNature Publishing Group es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subject.meshAging es_ES
dc.subject.meshChromosomes, Human, X es_ES
dc.subject.meshDNA Methylation es_ES
dc.subject.meshFemale es_ES
dc.subject.meshHumans es_ES
dc.subject.meshMale es_ES
dc.subject.meshPolymerase Chain Reaction es_ES
dc.subject.meshReproducibility of Results es_ES
dc.subject.meshX Chromosome Inactivation es_ES
dc.subject.meshMosaicism es_ES
dc.titleFemale chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosomees_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID27291797es_ES
dc.format.volume7es_ES
dc.format.number1es_ES
dc.format.page11843es_ES
dc.identifier.doi10.1038/ncomms11843es_ES
dc.contributor.funderNational High-Tech Research and Development Program (China) 
dc.contributor.funderFred Hutchinson Cancer Research Center 
dc.contributor.funderFudan Lung Cancer Study Ministry of Health
dc.contributor.funderNational Science Foundation (China)
dc.contributor.funderAgency for Science, Technology and Research (Singapur) 
dc.contributor.funderNational Science Council (China) 
dc.contributor.funderNational Institutes of Health (Estados Unidos) 
dc.contributor.funderNational Research Foundation of Korea 
dc.contributor.funderMinistry of Science, ICT and Future Planning (Korea) 
dc.description.peerreviewedes_ES
dc.identifier.e-issn2041-1723es_ES
dc.relation.publisherversionhttps://doi.org/10.1038/ncomms11843.es_ES
dc.identifier.journalNature communicationses_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Grupos de investigación::Grupo de Epidemiología Genética y Moleculares_ES
dc.repisalud.orgCNIOCNIO::Grupos de investigación::Grupo de Carcinogénesis Epiteliales_ES
dc.rights.accessRightsopen accesses_ES


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Atribución-NoComercial-CompartirIgual 4.0 Internacional
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