Mitchell J. Machiela, National Cancer Institute (NCI)
Weiyin Zhou, National Cancer Institute (NCI)
Eric Karlins, National Cancer Institute (NCI)
Joshua N. Sampson, National Cancer Institute (NCI)
Neal D. Freedman, National Cancer Institute (NCI)
Qi Yang, National Cancer Institute (NCI)
Belynda Hicks, National Cancer Institute (NCI)
Casey Dagnall, National Cancer Institute (NCI)
Christopher Hautman, National Cancer Institute (NCI)
Kevin B. Jacobs, National Cancer Institute (NCI)
Christian C. Abnet, National Cancer Institute (NCI)
Melinda C. Aldrich, Vanderbilt UniversityFollow
Christopher Amos, The University of Texas MD Anderson Cancer CenterFollow
Laufey T. Amundadottir, National Cancer Institute (NCI)
Alan A. Arslan, New York University
Laura E. Beane-Freeman, National Cancer Institute (NCI)Follow
Sonja I. Berndt, National Cancer Institute (NCI)
Amanda Black, National Cancer Institute (NCI)Follow
William J. Blot, Vanderbilt UniversityFollow
Cathryn H. Bock, Wayne State University School of Medicine
Paige M. Bracci, University of California, San Francisco
Louise A. Brinton, National Cancer Institute (NCI)Follow
H Bas Bueno-de-Mesquita, Imperial College London
Laurie Burdett, National Cancer Institute (NCI)
Julie E. Buring, Brigham and Women’s Hospital
Mary A. Butler, National Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, Ohio
Federico Canzian, Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
Tania Carreon, National Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, Ohio
Kari G. Chaffee, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota
I-Shou Chang, National Institute of Cancer Research, National Health Research Institutes, Zhunan, Taiwan
Nilanjan Chatterjee, National Cancer Institute (NCI)
Chu Chen, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington
Constance Chen, Harvard UniversityFollow
Kexin Chen, Department of Epidemiology and Biostatistics, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China
Charles C. Chung, National Cancer Institute (NCI)
Linda S. Cook, University of New Mexico, AlbuquerqueFollow
Marta Crous Bou, Harvard University
Michael Cullen, National Cancer Institute (NCI)
Faith G. Davis, University of Alberta
Immaculata De Vivo, Harvard University
Ti Ding, Shanxi Cancer Hospital, Taiyuan, Shanxi, China
Jennifer Doherty, Dartmouth CollegeFollow

Document Type


Publication Date


Publication Title

Nature Communications


Geisel School of Medicine


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 4 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.