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Repisalud author Machiela, Mitchell J author Zhou, Weiyin author Karlins, Eric author Sampson, Joshua N author Freedman, Neal D author Yang, Qi author Hicks, Belynda author Dagnall, Casey author Hautman, Christopher author Jacobs, Kevin B author Abnet, Christian C author Aldrich, Melinda C author Amos, Christopher author Amundadottir, Laufey T author Arslan, Alan A author Beane-Freeman, Laura E author Berndt, Sonja I author Black, Amanda author Blot, William J author Bock, Cathryn H author Bracci, Paige M author Brinton, Louise A author Bueno-de-Mesquita, H Bas author Burdett, Laurie author Buring, Julie E author Butler, Mary A author Canzian, Federico author Carreón, Tania author Chaffee, Kari G author Chang, I-Shou author Chatterjee, Nilanjan author Chen, Chu author Chen, Constance author Chen, Kexin author Chung, Charles C author Cook, Linda S author Crous Bou, Marta author Cullen, Michael author Davis, Faith G author De Vivo, Immaculata author Ding, Ti author Doherty, Jennifer author Duell, Eric J author Epstein, Caroline G author Fan, Jin-Hu author Figueroa, Jonine D author Fraumeni, Joseph F author Friedenreich, Christine M author Fuchs, Charles S author Gallinger, Steven author Gao, Yu-Tang author Gapstur, Susan M author Garcia-Closas, Montserrat author Gaudet, Mia M author Gaziano, J Michael author Giles, Graham G author Gillanders, Elizabeth M author Giovannucci, Edward L author Goldin, Lynn author Goldstein, Alisa M author Haiman, Christopher A author Hallmans, Goran author Hankinson, Susan E author Harris, Curtis C author Henriksson, Roger author Holly, Elizabeth A author Hong, Yun-Chul author Hoover, Robert N author Hsiung, Chao A author Hu, Nan author Hu, Wei author Hunter, David J author Hutchinson, Amy author Jenab, Mazda author Johansen, Christoffer author Khaw, Kay-Tee author Kim, Hee Nam author Kim, Yeul Hong author Kim, Young Tae author Klein, Alison P author Klein, Robert author Koh, Woon-Puay author Kolonel, Laurence N author Kooperberg, Charles author Kraft, Peter author Krogh, Vittorio author Kurtz, Robert C author LaCroix, Andrea author Lan, Qing author Landi, Maria Teresa author Marchand, Loic Le author Li, Donghui author Liang, Xiaolin author Liao, Linda M author Lin, Dongxin author Liu, Jianjun author Lissowska, Jolanta author Lu, Lingeng author Magliocco, Anthony M author Malats, Nuria author Matsuo, Keitaro author McNeill, Lorna H author McWilliams, Robert R author Melin, Beatrice S author Mirabello, Lisa author Moore, Lee author Olson, Sara H author Orlow, Irene author Park, Jae Yong author Patiño-García, Ana author Peplonska, Beata author Peters, Ulrike author Petersen, Gloria M author Pooler, Loreall author Prescott, Jennifer author Prokunina-Olsson, Ludmila author Purdue, Mark P author Qiao, You-Lin author Rajaraman, Preetha author Real Arribas, Francisco author Riboli, Elio author Risch, Harvey A author Rodriguez-Santiago, Benjamin author Ruder, Avima M author Savage, Sharon A author Schumacher, Fredrick author Schwartz, Ann G author Schwartz, Kendra L author Seow, Adeline author Wendy Setiawan, Veronica author Severi, Gianluca author Shen, Hongbing author Sheng, Xin author Shin, Min-Ho author Shu, Xiao-Ou author Silverman, Debra T author Spitz, Margaret R author Stevens, Victoria L author Stolzenberg-Solomon, Rachael author Stram, Daniel author Tang, Ze-Zhong author Taylor, Philip R author Teras, Lauren R author Tobias, Geoffrey S author Van Den Berg, David author Visvanathan, Kala author Wacholder, Sholom author Wang, Jiu-Cun author Wang, Zhaoming author Wentzensen, Nicolas author Wheeler, William author White, Emily author Wiencke, John K author Wolpin, Brian M author Wong, Maria Pik author Wu, Chen author Wu, Tangchun author Wu, Xifeng author Wu, Yi-Long author Wunder, Jay S author Xia, Lucy author Yang, Hannah P author Yang, Pan-Chyr author Yu, Kai author Zanetti, Krista A author Zeleniuch-Jacquotte, Anne author Zheng, Wei author Zhou, Baosen author Ziegler, Regina G author Perez-Jurado, Luis A author Caporaso, Neil E author Rothman, Nathaniel author Tucker, Margaret author Dean, Michael C author Yeager, Meredith author Chanock, Stephen J funder National High-Tech Research and Development Program (China) funder Fred Hutchinson Cancer Research Center funder Fudan Lung Cancer Study Ministry of Health funder National Science Foundation (China) funder Agency for Science, Technology and Research (Singapur) funder National Science Council (China) funder National Institutes of Health (Estados Unidos) funder National Research Foundation of Korea funder Ministry of Science, ICT and Future Planning (Korea) 2019-07-09T11:13:36Z 2019-07-09T11:13:36Z 2016 Nat Commun. 2016;7:11843. 2041-1723 http://hdl.handle.net/20.500.12105/7874 27291797 10.1038/ncomms11843 2041-1723 Nature communications 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. eng Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome research article 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 URL https://repisalud.isciii.es/bitstreams/714ea11f-8742-4eaf-9997-1a59d04b51b0/download File MD5 36b8a52a60a90ef10246db62f71a00a4 439503 application/pdf FemalechromosomeXmosaicismisage_2016.pdf URL https://repisalud.isciii.es/bitstreams/f1d05453-c4e0-4b38-859c-1c89ad619179/download File MD5 1e771fd89d25cc66645d72602c631d07 408078 application/pdf FemalechromosomeXmosaicismisage_2016_figure1.pdf URL https://repisalud.isciii.es/bitstreams/17f3498d-346d-4af8-93f5-71bdcf036880/download File MD5 4e3227c1b0b987f4a92e267bb3ed48e8 61126 text/plain FemalechromosomeXmosaicismisage_2016.pdf.txt URL https://repisalud.isciii.es/bitstreams/6f766cd3-5cfd-4a55-bbde-25996e6cef42/download File MD5 67f3c3d6d39d1ef656c74a5268c64e52 16007 text/plain FemalechromosomeXmosaicismisage_2016_figure1.pdf.txt