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

  1. Author:
    Machiela, Mitchell J.
    Zhou, Weiyin
    Karlins, Eric
    Sampson, Joshua N.
    Freedman, Neal D.
    Yang, Qi
    Hicks, Belynda
    Dagnall, Casey
    Hautman, Christopher
    Jacobs, Kevin B.
    Abnet, Christian C.
    Aldrich, Melinda C.
    Amos, Christopher
    Amundadottir, Laufey T.
    Arslan, Alan A.
    Beane-Freeman, Laura E.
    Berndt, Sonja I.
    Black, Amanda
    Blot, William J.
    Bock, Cathryn H.
    Bracci, Paige M.
    Brinton, Louise A.
    Bueno-de-Mesquita, H. Bas
    Burdett, Laurie
    Buring, Julie E.
    Butler, Mary A.
    Canzian, Federico
    Carreon, Tania
    Chaffee, Kari G.
    Chang, I-Shou
    Chatterjee, Nilanjan
    Chen, Chu
    Chen, Constance
    Chen, Kexin
    Chung, Charles
    Cook, Linda S.
    Bou, Marta Crous
    Cullen, Michael
    Davis, Faith G.
    De Vivo, Immaculata
    Ding, Ti
    Doherty, Jennifer
    Duell, Eric J.
    Epstein, Caroline G.
    Fan, Jin-Hu
    Figueroa, Jonine D.
    Fraumeni, Joseph F.
    Friedenreich, Christine M.
    Fuchs, Charles S.
    Gallinger, Steven
    Gao, Yu-Tang
    Gapstur, Susan M.
    Garcia-Closas, Montserrat
    Gaudet, Mia M.
    Gaziano, J. Michael
    Giles, Graham G.
    Gillanders, Elizabeth M.
    Giovannucci, Edward L.
    Goldin, Lynn
    Goldstein, Alisa M.
    Haiman, Christopher A.
    Hallmans, Goran
    Hankinson, Susan E.
    Harris, Curtis C.
    Henriksson, Roger
    Holly, Elizabeth A.
    Hong, Yun-Chul
    Hoover, Robert N.
    Hsiung, Chao A.
    Hu, Nan
    Hu, Wei
    Hunter, David J.
    Hutchinson, Amy
    Jenab, Mazda
    Johansen, Christoffer
    Khaw, Kay-Tee
    Kim, Hee Nam
    Kim, Yeul Hong
    Kim, Young Tae
    Klein, Alison P.
    Klein, Robert
    Koh, Woon-Puay
    Kolonel, Laurence N.
    Kooperberg, Charles
    Kraft, Peter
    Krogh, Vittorio
    Kurtz, Robert C.
    LaCroix, Andrea
    Lan, Qing
    Landi, Maria Teresa
    Li, Donghui
    Liang, Xiaolin
    Liao, Linda M.
    Lin, Dongxin
    Liu, Jianjun
    Lissowska, Jolanta
    Lu, Lingeng
    Magliocco, Anthony M.
    Malats, Nuria
    Matsuo, Keitaro
    McNeill, Lorna H.
    McWilliams, Robert R.
    Melin, Beatrice S.
    Mirabello, Lisa
    Moore, Lee
    Olson, Sara H.
    Orlow, Irene
    Park, Jae Yong
    Patino-Garcia, Ana
    Peplonska, Beata
    Peters, Ulrike
    Petersen, Gloria M.
    Pooler, Loreall
    Prescott, Jennifer
    Prokunina-Olsson, Ludmila
    Purdue, Mark P.
    Qiao, You-Lin
    Rajaraman, Preetha
    Real, Francisco X.
    Riboli, Elio
    Risch, Harvey A.
    Rodriguez-Santiago, Benjamin
    Ruder, Avima M.
    Savage, Sharon A.
    Schumacher, Fredrick
    Schwartz, Ann G.
    Schwartz, Kendra L.
    Seow, Adeline
    Setiawan, Veronica Wendy
    Severi, Gianluca
    Shen, Hongbing
    Sheng, Xin
    Shin, Min-Ho
    Shu, Xiao-Ou
    Silverman, Debra T.
    Spitz, Margaret R.
    Stevens, Victoria L.
    Stolzenberg-Solomon, Rachael
    Stram, Daniel
    Tang, Ze-Zhong
    Taylor, Philip R.
    Teras, Lauren R.
    Tobias, Geoffrey S.
    Van den Berg, David
    Visvanathan, Kala
    Wacholder, Sholom
    Wang, Jiu-Cun
    Wang, Zhaoming
    Wentzensen, Nicolas
    Wheeler, William
    White, Emily
    Wiencke, John K.
    Wolpin, Brian M.
    Wong, Maria Pik
    Wu, Chen
    Wu, Tangchun
    Wu, Xifeng
    Wu, Yi-Long
    Wunder, Jay S.
    Xia, Lucy
    Yang, Hannah P.
    Yang, Pan-Chyr
    Yu, Kai
    Zanetti, Krista A.
    Zeleniuch-Jacquotte, Anne
    Zheng, Wei
    Zhou, Baosen
    Ziegler, Regina G.
    Perez-Jurado, Luis A.
    Caporaso, Neil E.
    Rothman, Nathaniel
    Tucker, Margaret
    Dean, Michael C.
    Yeager, Meredith
    Chanock, Stephen J.

  2. Author Address

    NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.Leidos Biomed Res Inc, Canc Genom Res Lab, NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA.Bioinformed LLC, Gaithersburg, MD 20877 USA.Vanderbilt Univ, Sch Med, Dept Thorac Surg, Nashville, TN 37232 USA.Vanderbilt Univ, Med Ctr, Vanderbilt Epidemiol Ctr, Dept Med,Div Epidemiol, Nashville, TN 37232 USA.Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Div Canc Prevent & Populat Sci, Houston, TX 77030 USA.NYU, Sch Med, Dept Obstet & Gynecol, New York, NY 10016 USA.NYU, Sch Med, Dept Environm Med, New York, NY 10016 USA.NYU, Inst Canc, 550 1St Ave, New York, NY 10016 USA.Int Epidemiol Inst, Rockville, MD 20850 USA.Wayne State Univ, Sch Med, Karmanos Canc Inst, Detroit, MI 48201 USA.Wayne State Univ, Sch Med, Dept Oncol, Detroit, MI 48201 USA.Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.Natl Inst Publ Hlth & Environm RIVM, Dept Determinants Chron Dis DCD, NL-3721 Bilthoven, Netherlands.Univ Med Ctr, Dept Gastroenterol & Hepatol, NL-3584 CX Utrecht, Netherlands.Imperial Coll London, Sch Publ Hlth, Dept Epidemiol & Biostat, London SW7 2AZ, England.Univ Malaya, Fac Med, Dept Social & Prevent Med, Kuala Lumpur 50603, Malaysia.Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA.NIOSH, Ctr Dis Control & Prevent, Cincinnati, OH 45226 USA.German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany.Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA.Natl Hlth Res Inst, Natl Inst Canc Res, Zhunan 35053, Taiwan.Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA.Harvard Sch Publ Hlth, Program Genet Epidemiol & Stat Genet, Boston, MA 02115 USA.Tianjin Med Univ, Canc Inst & Hosp, Dept Epidemiol & Biostat, Tianjin 300040, Peoples R China.Univ New Mexico, Albuquerque, NM 87131 USA.Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA.Harvard Med Sch, Boston, MA 02115 USA.Univ Alberta, Sch Publ Hlth, Dept Publ Hlth Sci, Edmonton, AB T6G 2R3, Canada.Shanxi Canc Hosp, Taiyuan 030013, Shanxi, Peoples R China.Dartmouth Coll, Geisel Sch Med, Lebanon, NH 03755 USA.Catalan Inst Oncol ICO IDIBELL, Bellvitge Biomed Res Inst, Canc Epidemiol Res Program, Unit Nutr & Canc, Barcelona 08908, Spain.Shanghai Canc Inst, Shanghai 200032, Peoples R China.Alberta Hlth Serv, Canc Control Alberta, Dept Populat Hlth Res, Calgary, AB T2N 2T9, Canada.Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA.Samuel Lunenfeld Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON M5G 1X5, Canada.Shanghai Jiaotaong Univ, Sch Med, Renji Hosp, Dept Epidemiol,Shanghai Canc Inst, Shanghai 200032, Peoples R China.Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30303 USA.Inst Canc Res, Div Genet & Epidemiol, Sutton SM2 5NG, Surrey, England.Inst Canc Res, Breakthrough Breast Canc Ctr, Sutton SM2 5NG, Surrey, England.Brigham & Womens Hosp, Dept Med, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA.Brigham & Womens Hosp, Dept Med, Div Aging, 75 Francis St, Boston, MA 02115 USA.Harvard Med Sch, Boston, MA 02115 USA.Vet Affairs Boston Healthcare Syst, VA Cooperat Studies Programs, Massachusetts Vet Epidemiol Res & Informat Ctr, Boston, MA 02130 USA.Univ Melbourne, Canc Epidemiol Ctr, Canc Council Victoria, Melbourne, Vic 3010, Australia.Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic 3010, Australia.NCI, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA.Harvard Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.Univ Southern Calif, Keck Sch Med, Div Biostat, Dept Prevent Med, Los Angeles, CA 90033 USA.Umea Univ, Dept Publ Hlth & Clin Med Nutr Res, S-90187 Umea, Sweden.Univ Massachusetts, Sch Publ Hlth & Hlth Sci, Div Biostat & Epidemiol, Amherst, MA 01003 USA.NCI, Human Carcinogenesis Lab, Ctr Canc Res, Bethesda, MD 20892 USA.Umea Univ, Dept Radiat Sci, Oncol, S-90187 Umea, Sweden.Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul 151742, South Korea.Natl Hlth Res Inst, Inst Populat Hlth Sci, Zhunan 35053, Taiwan.Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.Int Agcy Res Canc IARC WHO, F-69372 Lyon, France.Rigshosp, Finsen Ctr, Oncol, DK-2100 Copenhagen, Denmark.Danish Canc Soc, Unit Survivorship Res, Res Ctr, DK-2100 Copenhagen, Denmark.Univ Cambridge, Sch Clin Med, Cambridge CB2 1TN, England.Chonnam Natl Univ, Ctr Creat Biomed Scientists, Gwangju 500757, South Korea.Korea Univ, Anam Hosp, Coll Med, Dept Internal Med,Div Oncol Hematol, Seoul 151742, South Korea.Seoul Natl Univ, Coll Med, Canc Res Inst, Dept Thorac & Cardiovasc Surg, Seoul 03080, South Korea.Johns Hopkins Univ, Sch Med, Dept Oncol, Baltimore, MD 21287 USA.Mem Sloan Kettering Canc Ctr, Program Canc Biol & Genet, New York, NY 10065 USA.Duke NUS Grad Med Sch, Singapore 169857, Singapore.Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 119077, Singapore.Univ Hawaii Canc Ctr, Program Epidemiol, Honolulu, HI 96813 USA.Fdn IRCCS Ist Nazl Tumori, I-20133 Milan, Italy.Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA.Univ Texas MD Anderson Canc Ctr, Dept Gastrointestinal Med Oncol, Houston, TX 77030 USA.Mem Sloan Kettering Canc Ctr, New York, NY 10065 USA.Chinese Acad Med Sci, Canc Inst & Hosp, Dept Etiol & Carcinogenesis, Beijing 100730, Peoples R China.Peking Union Med Coll, Beijing 100730, Peoples R China.Chinese Acad Med Sci, Canc Inst & Hosp, State Key Lab Mol Oncol, Beijing 100730, Peoples R China.Genome Inst Singapore, Dept Human Genet, Singapore 138672, Singapore.Anhui Med Univ, Sch Life Sci, Hefei 230032, Peoples R China.Maria Sklodowska Curie Canc Ctr, Dept Canc Epidemiol & Prevent, PL-02781 Warsaw, Poland.Inst Oncol, PL-02781 Warsaw, Poland.Yale Sch Publ Hlth, New Haven, CT 06510 USA.H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL 33612 USA.Spanish Natl Canc Res Ctr CNIO, Madrid 28029, Spain.Aichi Canc Ctr Res Inst, Div Mol Med, Nagoya, Aichi 4648681, Japan.Univ Texas MD Anderson Canc Ctr, Dept Hlth Dispar Res, Div OVP Canc Prevent & Populat Sci, Houston, TX 77030 USA.Univ Texas MD Anderson Canc Ctr, Duncan Family Inst, Ctr Community Engaged Translat Res, Houston, TX 77030 USA.Mayo Clin, Dept Oncol, Rochester, MN 55905 USA.Kyungpook Natl Univ, Med Ctr, Lung Canc Ctr, Daegu 101, South Korea.Univ Navarra, Navarra Inst Hlth Res, IdiSNA, Dept Pediat,Univ Clin Navarra, E-31080 Pamplona, Spain.Nofer Inst Occupat Med, PL-91348 Lodz, Poland.Univ Southern Calif, Los Angeles, CA 90007 USA.Chinese Acad Med Sci, Dept Epidemiol, Canc Inst Hosp, Beijing 100730, Peoples R China.Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Barcelona 08002, Spain.Imperial Coll London, Sch Publ Hlth, Div Epidemiol & Biostat, London SW7 2AZ, England.CIBERER, Barcelona 28029, Spain.qGenomics, Quantitat Genom Med Lab, Barcelona 08003, Spain.Wayne State Univ, Sch Med, Karmanos Canc Inst, Detroit, MI 48201 USA.Wayne State Univ, Sch Med, Dept Family Med & Publ Hlth Sci, Detroit, MI 48201 USA.Human Genet Fdn HuGeF, I-10126 Turin, Italy.Nanjing Med Univ, Jiangsu Key Lab Canc Biomarkers Prevent & Treatme, Nanjing 210029, Jiangsu, Peoples R China.Nanjing Med Univ, Sch Publ Hlth, Dept Epidemiol, Nanjing 210029, Jiangsu, Peoples R China.Chonnam Natl Univ, Sch Med, Dept Prevent Med, Gwanju 501746, South Korea.Vanderbilt Univ, Ctr Med, Vanderbilt Ingram Canc Ctr, Dept Med,Vanderbilt Epidemiol Ctr, Nashville, TN 37232 USA.Baylor Coll Med, Houston, TX 77030 USA.Johns Hopkins Bloomberg Sch Publ Hlth, Baltimore, MD 21218 USA.Fudan Univ, Sch Life Sci, Key Lab Contemporary Anthropol, Minist Educ, Shanghai 200433, Peoples R China.Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200433, Peoples R China.Informat Management Serv Inc, Calverton, MD 20904 USA.Univ Calif San Francisco, San Francisco, CA 94143 USA.Univ Hong Kong, Li Ka Shing Fac Med, Dept Pathol, Hong Kong, Hong Kong, Peoples R China.Huazhong Univ Sci & Technol, Inst Occupat Med, Wuhan 430400, Peoples R China.Huazhong Univ Sci & Technol, Sch Publ Hlth, Minist Educ, Key Lab Environm & Hlth, Wuhan 430400, Peoples R China.Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA.Guangdong Gen Hosp, Guangdong Lung Canc Inst, Guangzhou 515200, Guangdong, Peoples R China.Guangdong Acad Med Sci, Guangzhou 515200, Guangdong, Peoples R China.Washington Univ, Sch Med, Div Urol Surg, St Louis, MO 63110 USA.Natl Taiwan Univ, Coll Med, Dept Internal Med, Taipei 10617, Taiwan.NYU, Sch Med, Dept Populat Hlth, New York, NY 10016 USA.China Med Univ, Sch Publ Hlth, Dept Epidemiol, Shenyang 110001, Peoples R China.
    1. Year: 2016
    2. Date: Jun 13
  2. Journal: NATURE COMMUNICATIONS
  3. NATURE PUBLISHING GROUP,
    1. 7
  5. Type of Article: Article
  6. Article Number: 11843
  7. ISSN: 2041-1723
  1. 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 >2Mb 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.

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  2. DOI: 10.1038/ncomms11843
  3. View record in Web of Science®
  4. WOS: 000391864600001

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