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

It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome, but is not linked to non-haematologic cancer...

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Main Authors: Mitchell J. Machiela, Weiyin Zhou, Eric Karlins, Joshua N. Sampson, Neal D. Freedman, Qi Yang, Belynda Hicks, Casey Dagnall, Christopher Hautman, Kevin B. Jacobs, Christian C. Abnet, Melinda C. Aldrich, Christopher Amos, Laufey T. Amundadottir, Alan A. Arslan, Laura E. Beane-Freeman, Sonja I. Berndt, Amanda Black, William J. Blot, Cathryn H. Bock, Paige M. Bracci, Louise A. Brinton, H Bas Bueno-de-Mesquita, Laurie Burdett, Julie E. Buring, Mary A. Butler, Federico Canzian, Tania Carreón, Kari G. Chaffee, I-Shou Chang, Nilanjan Chatterjee, Chu Chen, Constance Chen, Kexin Chen, Charles C. Chung, Linda S. Cook, Marta Crous Bou, Michael Cullen, Faith G. Davis, Immaculata De Vivo, Ti Ding, Jennifer Doherty, Eric J. Duell, Caroline G. Epstein, Jin-Hu Fan, Jonine D. Figueroa, Joseph F. Fraumeni, Christine M. Friedenreich, Charles S. Fuchs, Steven Gallinger, Yu-Tang Gao, Susan M. Gapstur, Montserrat Garcia-Closas, Mia M. Gaudet, J. Michael Gaziano, Graham G. Giles, Elizabeth M. Gillanders, Edward L. Giovannucci, Lynn Goldin, Alisa M. Goldstein, Christopher A. Haiman, Goran Hallmans, Susan E. Hankinson, Curtis C. Harris, Roger Henriksson, Elizabeth A. Holly, Yun-Chul Hong, Robert N. Hoover, Chao A. Hsiung, Nan Hu, Wei Hu, David J. Hunter, Amy Hutchinson, Mazda Jenab, Christoffer Johansen, Kay-Tee Khaw, Hee Nam Kim, Yeul Hong Kim, Young Tae Kim, Alison P. Klein, Robert Klein, Woon-Puay Koh, Laurence N. Kolonel, Charles Kooperberg, Peter Kraft, Vittorio Krogh, Robert C. Kurtz, Andrea LaCroix, Qing Lan, Maria Teresa Landi, Loic Le Marchand, Donghui Li, Xiaolin Liang, Linda M. Liao, Dongxin Lin, Jianjun Liu, Jolanta Lissowska, Lingeng Lu, Anthony M. Magliocco, Nuria Malats, Keitaro Matsuo, Lorna H. McNeill, Robert R. McWilliams, Beatrice S. Melin, Lisa Mirabello, Lee Moore, Sara H. Olson, Irene Orlow, Jae Yong Park, Ana Patiño-Garcia, Beata Peplonska, Ulrike Peters, Gloria M. Petersen, Loreall Pooler, Jennifer Prescott, Ludmila Prokunina-Olsson, Mark P. Purdue, You-Lin Qiao, Preetha Rajaraman, Francisco X. Real, Elio Riboli, Harvey A. Risch, Benjamin Rodriguez-Santiago, Avima M. Ruder, Sharon A. Savage, Fredrick Schumacher, Ann G. Schwartz, Kendra L. Schwartz, Adeline Seow, Veronica Wendy Setiawan, Gianluca Severi, Hongbing Shen, Xin Sheng, Min-Ho Shin, Xiao-Ou Shu, Debra T. Silverman, Margaret R. Spitz, Victoria L. Stevens, Rachael Stolzenberg-Solomon, Daniel Stram, Ze-Zhong Tang, Philip R. Taylor, Lauren R. Teras, Geoffrey S. Tobias, David Van Den Berg, Kala Visvanathan, Sholom Wacholder, Jiu-Cun Wang, Zhaoming Wang, Nicolas Wentzensen, William Wheeler, Emily White, John K. Wiencke, Brian M. Wolpin, Maria Pik Wong, Chen Wu, Tangchun Wu, Xifeng Wu, Yi-Long Wu, Jay S. Wunder, Lucy Xia, Hannah P. Yang, Pan-Chyr Yang, Kai Yu, Krista A. Zanetti, Anne Zeleniuch-Jacquotte, Wei Zheng, Baosen Zhou, Regina G. Ziegler, Luis A. Perez-Jurado, Neil E. Caporaso, Nathaniel Rothman, Margaret Tucker, Michael C. Dean, Meredith Yeager, Stephen J. Chanock
Format: Article
Language:English
Published: Nature Portfolio 2016-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms11843
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author Mitchell J. Machiela
Weiyin Zhou
Eric Karlins
Joshua N. Sampson
Neal D. Freedman
Qi Yang
Belynda Hicks
Casey Dagnall
Christopher Hautman
Kevin B. Jacobs
Christian C. Abnet
Melinda C. Aldrich
Christopher Amos
Laufey T. Amundadottir
Alan A. Arslan
Laura E. Beane-Freeman
Sonja I. Berndt
Amanda Black
William J. Blot
Cathryn H. Bock
Paige M. Bracci
Louise A. Brinton
H Bas Bueno-de-Mesquita
Laurie Burdett
Julie E. Buring
Mary A. Butler
Federico Canzian
Tania Carreón
Kari G. Chaffee
I-Shou Chang
Nilanjan Chatterjee
Chu Chen
Constance Chen
Kexin Chen
Charles C. Chung
Linda S. Cook
Marta Crous Bou
Michael Cullen
Faith G. Davis
Immaculata De Vivo
Ti Ding
Jennifer Doherty
Eric J. Duell
Caroline G. Epstein
Jin-Hu Fan
Jonine D. Figueroa
Joseph F. Fraumeni
Christine M. Friedenreich
Charles S. Fuchs
Steven Gallinger
Yu-Tang Gao
Susan M. Gapstur
Montserrat Garcia-Closas
Mia M. Gaudet
J. Michael Gaziano
Graham G. Giles
Elizabeth M. Gillanders
Edward L. Giovannucci
Lynn Goldin
Alisa M. Goldstein
Christopher A. Haiman
Goran Hallmans
Susan E. Hankinson
Curtis C. Harris
Roger Henriksson
Elizabeth A. Holly
Yun-Chul Hong
Robert N. Hoover
Chao A. Hsiung
Nan Hu
Wei Hu
David J. Hunter
Amy Hutchinson
Mazda Jenab
Christoffer Johansen
Kay-Tee Khaw
Hee Nam Kim
Yeul Hong Kim
Young Tae Kim
Alison P. Klein
Robert Klein
Woon-Puay Koh
Laurence N. Kolonel
Charles Kooperberg
Peter Kraft
Vittorio Krogh
Robert C. Kurtz
Andrea LaCroix
Qing Lan
Maria Teresa Landi
Loic Le Marchand
Donghui Li
Xiaolin Liang
Linda M. Liao
Dongxin Lin
Jianjun Liu
Jolanta Lissowska
Lingeng Lu
Anthony M. Magliocco
Nuria Malats
Keitaro Matsuo
Lorna H. McNeill
Robert R. McWilliams
Beatrice S. Melin
Lisa Mirabello
Lee Moore
Sara H. Olson
Irene Orlow
Jae Yong Park
Ana Patiño-Garcia
Beata Peplonska
Ulrike Peters
Gloria M. Petersen
Loreall Pooler
Jennifer Prescott
Ludmila Prokunina-Olsson
Mark P. Purdue
You-Lin Qiao
Preetha Rajaraman
Francisco X. Real
Elio Riboli
Harvey A. Risch
Benjamin Rodriguez-Santiago
Avima M. Ruder
Sharon A. Savage
Fredrick Schumacher
Ann G. Schwartz
Kendra L. Schwartz
Adeline Seow
Veronica Wendy Setiawan
Gianluca Severi
Hongbing Shen
Xin Sheng
Min-Ho Shin
Xiao-Ou Shu
Debra T. Silverman
Margaret R. Spitz
Victoria L. Stevens
Rachael Stolzenberg-Solomon
Daniel Stram
Ze-Zhong Tang
Philip R. Taylor
Lauren R. Teras
Geoffrey S. Tobias
David Van Den Berg
Kala Visvanathan
Sholom Wacholder
Jiu-Cun Wang
Zhaoming Wang
Nicolas Wentzensen
William Wheeler
Emily White
John K. Wiencke
Brian M. Wolpin
Maria Pik Wong
Chen Wu
Tangchun Wu
Xifeng Wu
Yi-Long Wu
Jay S. Wunder
Lucy Xia
Hannah P. Yang
Pan-Chyr Yang
Kai Yu
Krista A. Zanetti
Anne Zeleniuch-Jacquotte
Wei Zheng
Baosen Zhou
Regina G. Ziegler
Luis A. Perez-Jurado
Neil E. Caporaso
Nathaniel Rothman
Margaret Tucker
Michael C. Dean
Meredith Yeager
Stephen J. Chanock
author_facet Mitchell J. Machiela
Weiyin Zhou
Eric Karlins
Joshua N. Sampson
Neal D. Freedman
Qi Yang
Belynda Hicks
Casey Dagnall
Christopher Hautman
Kevin B. Jacobs
Christian C. Abnet
Melinda C. Aldrich
Christopher Amos
Laufey T. Amundadottir
Alan A. Arslan
Laura E. Beane-Freeman
Sonja I. Berndt
Amanda Black
William J. Blot
Cathryn H. Bock
Paige M. Bracci
Louise A. Brinton
H Bas Bueno-de-Mesquita
Laurie Burdett
Julie E. Buring
Mary A. Butler
Federico Canzian
Tania Carreón
Kari G. Chaffee
I-Shou Chang
Nilanjan Chatterjee
Chu Chen
Constance Chen
Kexin Chen
Charles C. Chung
Linda S. Cook
Marta Crous Bou
Michael Cullen
Faith G. Davis
Immaculata De Vivo
Ti Ding
Jennifer Doherty
Eric J. Duell
Caroline G. Epstein
Jin-Hu Fan
Jonine D. Figueroa
Joseph F. Fraumeni
Christine M. Friedenreich
Charles S. Fuchs
Steven Gallinger
Yu-Tang Gao
Susan M. Gapstur
Montserrat Garcia-Closas
Mia M. Gaudet
J. Michael Gaziano
Graham G. Giles
Elizabeth M. Gillanders
Edward L. Giovannucci
Lynn Goldin
Alisa M. Goldstein
Christopher A. Haiman
Goran Hallmans
Susan E. Hankinson
Curtis C. Harris
Roger Henriksson
Elizabeth A. Holly
Yun-Chul Hong
Robert N. Hoover
Chao A. Hsiung
Nan Hu
Wei Hu
David J. Hunter
Amy Hutchinson
Mazda Jenab
Christoffer Johansen
Kay-Tee Khaw
Hee Nam Kim
Yeul Hong Kim
Young Tae Kim
Alison P. Klein
Robert Klein
Woon-Puay Koh
Laurence N. Kolonel
Charles Kooperberg
Peter Kraft
Vittorio Krogh
Robert C. Kurtz
Andrea LaCroix
Qing Lan
Maria Teresa Landi
Loic Le Marchand
Donghui Li
Xiaolin Liang
Linda M. Liao
Dongxin Lin
Jianjun Liu
Jolanta Lissowska
Lingeng Lu
Anthony M. Magliocco
Nuria Malats
Keitaro Matsuo
Lorna H. McNeill
Robert R. McWilliams
Beatrice S. Melin
Lisa Mirabello
Lee Moore
Sara H. Olson
Irene Orlow
Jae Yong Park
Ana Patiño-Garcia
Beata Peplonska
Ulrike Peters
Gloria M. Petersen
Loreall Pooler
Jennifer Prescott
Ludmila Prokunina-Olsson
Mark P. Purdue
You-Lin Qiao
Preetha Rajaraman
Francisco X. Real
Elio Riboli
Harvey A. Risch
Benjamin Rodriguez-Santiago
Avima M. Ruder
Sharon A. Savage
Fredrick Schumacher
Ann G. Schwartz
Kendra L. Schwartz
Adeline Seow
Veronica Wendy Setiawan
Gianluca Severi
Hongbing Shen
Xin Sheng
Min-Ho Shin
Xiao-Ou Shu
Debra T. Silverman
Margaret R. Spitz
Victoria L. Stevens
Rachael Stolzenberg-Solomon
Daniel Stram
Ze-Zhong Tang
Philip R. Taylor
Lauren R. Teras
Geoffrey S. Tobias
David Van Den Berg
Kala Visvanathan
Sholom Wacholder
Jiu-Cun Wang
Zhaoming Wang
Nicolas Wentzensen
William Wheeler
Emily White
John K. Wiencke
Brian M. Wolpin
Maria Pik Wong
Chen Wu
Tangchun Wu
Xifeng Wu
Yi-Long Wu
Jay S. Wunder
Lucy Xia
Hannah P. Yang
Pan-Chyr Yang
Kai Yu
Krista A. Zanetti
Anne Zeleniuch-Jacquotte
Wei Zheng
Baosen Zhou
Regina G. Ziegler
Luis A. Perez-Jurado
Neil E. Caporaso
Nathaniel Rothman
Margaret Tucker
Michael C. Dean
Meredith Yeager
Stephen J. Chanock
author_sort Mitchell J. Machiela
collection DOAJ
description It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome, but is not linked to non-haematologic cancer risk
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spelling doaj.art-ff910db139f74f1fb230ff9dacdc33912022-12-21T19:09:18ZengNature PortfolioNature Communications2041-17232016-06-01711910.1038/ncomms11843Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosomeMitchell J. Machiela0Weiyin Zhou1Eric Karlins2Joshua N. Sampson3Neal D. Freedman4Qi Yang5Belynda Hicks6Casey Dagnall7Christopher Hautman8Kevin B. Jacobs9Christian C. Abnet10Melinda C. Aldrich11Christopher Amos12Laufey T. Amundadottir13Alan A. Arslan14Laura E. Beane-Freeman15Sonja I. Berndt16Amanda Black17William J. Blot18Cathryn H. Bock19Paige M. Bracci20Louise A. Brinton21H Bas Bueno-de-Mesquita22Laurie Burdett23Julie E. Buring24Mary A. Butler25Federico Canzian26Tania Carreón27Kari G. Chaffee28I-Shou Chang29Nilanjan Chatterjee30Chu Chen31Constance Chen32Kexin Chen33Charles C. Chung34Linda S. Cook35Marta Crous Bou36Michael Cullen37Faith G. Davis38Immaculata De Vivo39Ti Ding40Jennifer Doherty41Eric J. Duell42Caroline G. Epstein43Jin-Hu Fan44Jonine D. Figueroa45Joseph F. Fraumeni46Christine M. Friedenreich47Charles S. Fuchs48Steven Gallinger49Yu-Tang Gao50Susan M. Gapstur51Montserrat Garcia-Closas52Mia M. Gaudet53J. Michael Gaziano54Graham G. Giles55Elizabeth M. Gillanders56Edward L. Giovannucci57Lynn Goldin58Alisa M. Goldstein59Christopher A. Haiman60Goran Hallmans61Susan E. Hankinson62Curtis C. Harris63Roger Henriksson64Elizabeth A. Holly65Yun-Chul Hong66Robert N. Hoover67Chao A. Hsiung68Nan Hu69Wei Hu70David J. Hunter71Amy Hutchinson72Mazda Jenab73Christoffer Johansen74Kay-Tee Khaw75Hee Nam Kim76Yeul Hong Kim77Young Tae Kim78Alison P. Klein79Robert Klein80Woon-Puay Koh81Laurence N. Kolonel82Charles Kooperberg83Peter Kraft84Vittorio Krogh85Robert C. Kurtz86Andrea LaCroix87Qing Lan88Maria Teresa Landi89Loic Le Marchand90Donghui Li91Xiaolin Liang92Linda M. Liao93Dongxin Lin94Jianjun Liu95Jolanta Lissowska96Lingeng Lu97Anthony M. Magliocco98Nuria Malats99Keitaro Matsuo100Lorna H. McNeill101Robert R. McWilliams102Beatrice S. Melin103Lisa Mirabello104Lee Moore105Sara H. Olson106Irene Orlow107Jae Yong Park108Ana Patiño-Garcia109Beata Peplonska110Ulrike Peters111Gloria M. Petersen112Loreall Pooler113Jennifer Prescott114Ludmila Prokunina-Olsson115Mark P. Purdue116You-Lin Qiao117Preetha Rajaraman118Francisco X. Real119Elio Riboli120Harvey A. Risch121Benjamin Rodriguez-Santiago122Avima M. Ruder123Sharon A. Savage124Fredrick Schumacher125Ann G. Schwartz126Kendra L. Schwartz127Adeline Seow128Veronica Wendy Setiawan129Gianluca Severi130Hongbing Shen131Xin Sheng132Min-Ho Shin133Xiao-Ou Shu134Debra T. Silverman135Margaret R. Spitz136Victoria L. Stevens137Rachael Stolzenberg-Solomon138Daniel Stram139Ze-Zhong Tang140Philip R. Taylor141Lauren R. Teras142Geoffrey S. Tobias143David Van Den Berg144Kala Visvanathan145Sholom Wacholder146Jiu-Cun Wang147Zhaoming Wang148Nicolas Wentzensen149William Wheeler150Emily White151John K. Wiencke152Brian M. Wolpin153Maria Pik Wong154Chen Wu155Tangchun Wu156Xifeng Wu157Yi-Long Wu158Jay S. Wunder159Lucy Xia160Hannah P. Yang161Pan-Chyr Yang162Kai Yu163Krista A. Zanetti164Anne Zeleniuch-Jacquotte165Wei Zheng166Baosen Zhou167Regina G. Ziegler168Luis A. Perez-Jurado169Neil E. Caporaso170Nathaniel Rothman171Margaret Tucker172Michael C. Dean173Meredith Yeager174Stephen J. Chanock175Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, Cancer Genomics Research Laboratory, National Cancer Institute, Leidos Biomedical Research Inc.Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Thoracic Surgery, Vanderbilt University School of MedicineDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer CenterDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Obstetrics and Gynecology, New York University School of MedicineDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical CenterKarmanos Cancer Institute and Department of Oncology, Wayne State University School of MedicineDepartment of Epidemiology and Biostatistics, University of California San FranciscoDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department for Determinants of Chronic Diseases (DCD), National Institute for Public Health and the Environment (RIVM)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Preventive Medicine, Brigham and Women’s HospitalNational Institute for Occupational Safety and Health, Centers for Disease Control and PreventionDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ)National Institute for Occupational Safety and Health, Centers for Disease Control and PreventionDepartment of Health Sciences Research, Mayo ClinicNational Institute of Cancer Research, National Health Research InstitutesDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Public Health Sciences, Fred Hutchinson Cancer Research CenterProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public HealthDepartment of Epidemiology and Biostatistics, Tianjin Medical University Cancer Institute and HospitalDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)University of New MexicoProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public HealthDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Public Health Sciences, School of Public Health, University of AlbertaProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public HealthShanxi Cancer HospitalGeisel School of Medicine, Dartmouth CollegeUnit of Nutrition and Cancer, Cancer Epidemiology Research Program, Bellvitge Biomedical Research Institute, Catalan Institute of Oncology (ICO-IDIBELL)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Shanghai Cancer InstituteDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Population Health Research, Cancer Control Alberta, Alberta Health ServicesChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical SchoolFred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research InstituteDepartment of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotaong University School of MedicineEpidemiology Research Program, American Cancer SocietyDivision of Genetics and Epidemiology, and Breakthrough Breast Cancer Centre, Institute for Cancer ResearchEpidemiology Research Program, American Cancer SocietyDivisions of Preventive Medicine and Aging, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical SchoolCancer Epidemiology Centre, Cancer Council Victoria & Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of MelbourneDivision of Cancer Control and Population Sciences, National Cancer InstituteChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical SchoolDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern CaliforniaDepartment of Public Health and Clinical Medicine/Nutritional Research, Umeå UniversityChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical SchoolLaboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer InstituteDepartment of Radiation Sciences, Oncology, Umeå UniversityDepartment of Epidemiology and Biostatistics, University of California San FranciscoDepartment of Preventive Medicine, Seoul National University College of MedicineDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Institute of Population Health Sciences, National Health Research InstitutesDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public HealthDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)International Agency for Research on Cancer (IARC-WHO)Oncology, Finsen CentreSchool of Clinical Medicine, University of CambridgeCenter for Creative Biomedical Scientists, Chonnam National UniversityDepartment of Internal Medicine, Division of Oncology/Hematology, College of Medicine, Korea University Anam HospitalDepartment of Thoracic and Cardiovascular Surgery, Cancer Research Institute, Seoul National University College of MedicineDepartment of Oncology, The Johns Hopkins University School of MedicineProgram in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer CenterDuke-NUS Graduate Medical SchoolEpidemiology Program, University of Hawaii Cancer CenterDivision of Public Health Sciences, Fred Hutchinson Cancer Research CenterProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public HealthFondazione IRCCS Istituto Nazionale dei TumoriDepartment of Medicine, Memorial Sloan-Kettering Cancer CenterDivision of Public Health Sciences, Fred Hutchinson Cancer Research CenterDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Epidemiology Program, University of Hawaii Cancer CenterDepartment of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer CenterMemorial Sloan-Kettering Cancer CenterDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Etiology & Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Human Genetics, Genome Institute of SingaporeDepartment of Cancer Epidemiology and Prevention, Maria Sklodowska-Curie Cancer Center and Institute of OncologyYale School of Public HealthH. Lee Moffitt Cancer Center and Research InstituteSpanish National Cancer Research Centre (CNIO)Division of Molecular Medicine, Aichi Cancer Center Research InstituteDepartment of Health Disparities Research, Division of OVP, Cancer Prevention and Population Sciences, and Center for Community-Engaged Translational Research, Duncan Family Institute, The University of Texas MD Anderson Cancer CenterDepartment of Oncology, Mayo ClinicDepartment of Radiation Sciences, Oncology, Umeå UniversityDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Memorial Sloan-Kettering Cancer CenterMemorial Sloan-Kettering Cancer CenterLung Cancer Center, Kyungpook National University Medical CenterDepartment of Pediatrics, University Clinic of Navarra, Universidad de Navarra, IdiSNA, Navarra Institute for Health ResearchNofer Institute of Occupational MedicineDivision of Public Health Sciences, Fred Hutchinson Cancer Research CenterDepartment of Health Sciences Research, Mayo ClinicUniversity of Southern CaliforniaProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public HealthDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Epidemiology, Cancer Institute (Hospital), Chinese Academy of Medical SciencesDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Spanish National Cancer Research Centre (CNIO)Division of Epidemiology and Biostatistics, School of Public Health, Imperial College LondonYale School of Public HealthDepartament de Ciències Experimentals i de la Salut, Universitat Pompeu FabraNational Institute for Occupational Safety and Health, Centers for Disease Control and PreventionDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern CaliforniaKarmanos Cancer Institute and Department of Oncology, Wayne State University School of MedicineKarmanos Cancer Institute and Department of Family Medicine and Public Health Sciences, Wayne State University School of MedicineSaw Swee Hock School of Public Health, National University of SingaporeDepartment of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern CaliforniaCancer Epidemiology Centre, Cancer Council Victoria & Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of MelbourneJiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Nanjing Medical UniversityUniversity of Southern CaliforniaDepartment of Preventive Medicine, Chonnam National University Medical SchoolDepartment of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical CenterDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Baylor College of MedicineEpidemiology Research Program, American Cancer SocietyDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern CaliforniaShanxi Cancer HospitalDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Epidemiology Research Program, American Cancer SocietyDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Preventive Medicine, Biostatistics Division, Keck School of Medicine at the University of Southern CaliforniaJohns Hopkins Bloomberg School of Public HealthDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan UniversityDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Information Management Services Inc.Division of Public Health Sciences, Fred Hutchinson Cancer Research CenterUniversity of California San FranciscoChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical SchoolDepartment of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong KongDepartment of Etiology & Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeInstitute of Occupational Medicine and Ministry of Education Key Laboratory for Environment and Health, School of Public Health, Huazhong University of Science and TechnologyDepartment of Epidemiology, The University of Texas MD Anderson Cancer CenterGuangdong Lung Cancer Institute, Guangdong General Hospital & Guangdong Academy of Medical SciencesDivision of Urologic Surgery, Washington University School of MedicineUniversity of Southern CaliforniaDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Department of Internal Medicine, National Taiwan University College of MedicineDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Control and Population Sciences, National Cancer InstituteNew York University Cancer InstituteDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical CenterDepartment of Epidemiology, School of Public Health, China Medical UniversityDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Departament de Ciències Experimentals i de la Salut, Universitat Pompeu FabraDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH)It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome, but is not linked to non-haematologic cancer riskhttps://doi.org/10.1038/ncomms11843
spellingShingle Mitchell J. Machiela
Weiyin Zhou
Eric Karlins
Joshua N. Sampson
Neal D. Freedman
Qi Yang
Belynda Hicks
Casey Dagnall
Christopher Hautman
Kevin B. Jacobs
Christian C. Abnet
Melinda C. Aldrich
Christopher Amos
Laufey T. Amundadottir
Alan A. Arslan
Laura E. Beane-Freeman
Sonja I. Berndt
Amanda Black
William J. Blot
Cathryn H. Bock
Paige M. Bracci
Louise A. Brinton
H Bas Bueno-de-Mesquita
Laurie Burdett
Julie E. Buring
Mary A. Butler
Federico Canzian
Tania Carreón
Kari G. Chaffee
I-Shou Chang
Nilanjan Chatterjee
Chu Chen
Constance Chen
Kexin Chen
Charles C. Chung
Linda S. Cook
Marta Crous Bou
Michael Cullen
Faith G. Davis
Immaculata De Vivo
Ti Ding
Jennifer Doherty
Eric J. Duell
Caroline G. Epstein
Jin-Hu Fan
Jonine D. Figueroa
Joseph F. Fraumeni
Christine M. Friedenreich
Charles S. Fuchs
Steven Gallinger
Yu-Tang Gao
Susan M. Gapstur
Montserrat Garcia-Closas
Mia M. Gaudet
J. Michael Gaziano
Graham G. Giles
Elizabeth M. Gillanders
Edward L. Giovannucci
Lynn Goldin
Alisa M. Goldstein
Christopher A. Haiman
Goran Hallmans
Susan E. Hankinson
Curtis C. Harris
Roger Henriksson
Elizabeth A. Holly
Yun-Chul Hong
Robert N. Hoover
Chao A. Hsiung
Nan Hu
Wei Hu
David J. Hunter
Amy Hutchinson
Mazda Jenab
Christoffer Johansen
Kay-Tee Khaw
Hee Nam Kim
Yeul Hong Kim
Young Tae Kim
Alison P. Klein
Robert Klein
Woon-Puay Koh
Laurence N. Kolonel
Charles Kooperberg
Peter Kraft
Vittorio Krogh
Robert C. Kurtz
Andrea LaCroix
Qing Lan
Maria Teresa Landi
Loic Le Marchand
Donghui Li
Xiaolin Liang
Linda M. Liao
Dongxin Lin
Jianjun Liu
Jolanta Lissowska
Lingeng Lu
Anthony M. Magliocco
Nuria Malats
Keitaro Matsuo
Lorna H. McNeill
Robert R. McWilliams
Beatrice S. Melin
Lisa Mirabello
Lee Moore
Sara H. Olson
Irene Orlow
Jae Yong Park
Ana Patiño-Garcia
Beata Peplonska
Ulrike Peters
Gloria M. Petersen
Loreall Pooler
Jennifer Prescott
Ludmila Prokunina-Olsson
Mark P. Purdue
You-Lin Qiao
Preetha Rajaraman
Francisco X. Real
Elio Riboli
Harvey A. Risch
Benjamin Rodriguez-Santiago
Avima M. Ruder
Sharon A. Savage
Fredrick Schumacher
Ann G. Schwartz
Kendra L. Schwartz
Adeline Seow
Veronica Wendy Setiawan
Gianluca Severi
Hongbing Shen
Xin Sheng
Min-Ho Shin
Xiao-Ou Shu
Debra T. Silverman
Margaret R. Spitz
Victoria L. Stevens
Rachael Stolzenberg-Solomon
Daniel Stram
Ze-Zhong Tang
Philip R. Taylor
Lauren R. Teras
Geoffrey S. Tobias
David Van Den Berg
Kala Visvanathan
Sholom Wacholder
Jiu-Cun Wang
Zhaoming Wang
Nicolas Wentzensen
William Wheeler
Emily White
John K. Wiencke
Brian M. Wolpin
Maria Pik Wong
Chen Wu
Tangchun Wu
Xifeng Wu
Yi-Long Wu
Jay S. Wunder
Lucy Xia
Hannah P. Yang
Pan-Chyr Yang
Kai Yu
Krista A. Zanetti
Anne Zeleniuch-Jacquotte
Wei Zheng
Baosen Zhou
Regina G. Ziegler
Luis A. Perez-Jurado
Neil E. Caporaso
Nathaniel Rothman
Margaret Tucker
Michael C. Dean
Meredith Yeager
Stephen J. Chanock
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
Nature Communications
title Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
title_full Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
title_fullStr Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
title_full_unstemmed Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
title_short Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
title_sort female chromosome x mosaicism is age related and preferentially affects the inactivated x chromosome
url https://doi.org/10.1038/ncomms11843
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