Machiela, Mitchell JZhou, WeiyinKarlins, EricSampson, Joshua NFreedman, Neal DYang, QiHicks, BelyndaDagnall, CaseyHautman, ChristopherJacobs, Kevin BAbnet, Christian CAldrich, Melinda CAmos, ChristopherAmundadottir, Laufey TArslan, Alan ABeane-Freeman, Laura EBerndt, Sonja IBlack, AmandaBlot, William JBock, Cathryn HBracci, Paige MBrinton, Louise ABueno-de-Mesquita, H BasBurdett, LaurieBuring, Julie EButler, Mary ACanzian, FedericoCarreón, TaniaChaffee, Kari GChang, I-ShouChatterjee, NilanjanChen, ChuChen, ConstanceChen, KexinChung, Charles CCook, Linda SCrous Bou, MartaCullen, MichaelDavis, Faith GDe Vivo, ImmaculataDing, TiDoherty, JenniferDuell, Eric JEpstein, Caroline GFan, Jin-HuFigueroa, Jonine DFraumeni, Joseph FFriedenreich, Christine MFuchs, Charles SGallinger, StevenGao, Yu-TangGapstur, Susan MGarcia-Closas, MontserratGaudet, Mia MGaziano, J MichaelGiles, Graham GGillanders, Elizabeth MGiovannucci, Edward LGoldin, LynnGoldstein, Alisa MHaiman, Christopher AHallmans, GoranHankinson, Susan EHarris, Curtis CHenriksson, RogerHolly, Elizabeth AHong, Yun-ChulHoover, Robert NHsiung, Chao AHu, NanHu, WeiHunter, David JHutchinson, AmyJenab, MazdaJohansen, ChristofferKhaw, Kay-TeeKim, Hee NamKim, Yeul HongKim, Young TaeKlein, Alison PKlein, RobertKoh, Woon-PuayKolonel, Laurence NKooperberg, CharlesKraft, PeterKrogh, VittorioKurtz, Robert CLaCroix, AndreaLan, QingLandi, Maria TeresaMarchand, Loic LeLi, DonghuiLiang, XiaolinLiao, Linda MLin, DongxinLiu, JianjunLissowska, JolantaLu, LingengMagliocco, Anthony MMalats, NuriaMatsuo, KeitaroMcNeill, Lorna HMcWilliams, Robert RMelin, Beatrice SMirabello, LisaMoore, LeeOlson, Sara HOrlow, IrenePark, Jae YongPatiño-García, AnaPeplonska, BeataPeters, UlrikePetersen, Gloria MPooler, LoreallPrescott, JenniferProkunina-Olsson, LudmilaPurdue, Mark PQiao, You-LinRajaraman, PreethaReal Arribas, FranciscoRiboli, ElioRisch, Harvey ARodriguez-Santiago, BenjaminRuder, Avima MSavage, Sharon ASchumacher, FredrickSchwartz, Ann GSchwartz, Kendra LSeow, AdelineWendy Setiawan, VeronicaSeveri, GianlucaShen, HongbingSheng, XinShin, Min-HoShu, Xiao-OuSilverman, Debra TSpitz, Margaret RStevens, Victoria LStolzenberg-Solomon, RachaelStram, DanielTang, Ze-ZhongTaylor, Philip RTeras, Lauren RTobias, Geoffrey SVan Den Berg, DavidVisvanathan, KalaWacholder, SholomWang, Jiu-CunWang, ZhaomingWentzensen, NicolasWheeler, WilliamWhite, EmilyWiencke, John KWolpin, Brian MWong, Maria PikWu, ChenWu, TangchunWu, XifengWu, Yi-LongWunder, Jay SXia, LucyYang, Hannah PYang, Pan-ChyrYu, KaiZanetti, Krista AZeleniuch-Jacquotte, AnneZheng, WeiZhou, BaosenZiegler, Regina GPerez-Jurado, Luis ACaporaso, Neil ERothman, NathanielTucker, MargaretDean, Michael CYeager, MeredithChanock, Stephen J2019-07-092019-07-092016Nat Commun. 2016;7:11843.2041-1723http://hdl.handle.net/20.500.12105/7874To 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.engVoRhttp://creativecommons.org/licenses/by-nc-sa/4.0/AgingChromosomes, Human, XDNA MethylationFemaleHumansMalePolymerase Chain ReactionReproducibility of ResultsX Chromosome InactivationMosaicismAtribución-NoComercial-CompartirIgual 4.0 Internacional27291797711184310.1038/ncomms118432041-1723Nature communicationsopen access