Characterization of large structural genetic mosaicism in human autosomes

doi:10.1016/j.ajhg.2015.01.011

Meta-Analysis

. 2015 Mar 5;96(3):487-97.

doi: 10.1016/j.ajhg.2015.01.011.

Characterization of large structural genetic mosaicism in human autosomes

Mitchell J Machiela¹, Weiyin Zhou², Joshua N Sampson¹, Michael C Dean³, Kevin B Jacobs⁴, Amanda Black¹, Louise A Brinton¹, I-Shou Chang⁵, Chu Chen⁶, Constance Chen⁷, Kexin Chen⁸, Linda S Cook⁹, Marta Crous Bou¹⁰, Immaculata De Vivo¹⁰, Jennifer Doherty¹¹, Christine M Friedenreich¹², Mia M Gaudet¹³, Christopher A Haiman¹⁴, Susan E Hankinson¹⁵, Patricia Hartge¹, Brian E Henderson¹⁴, Yun-Chul Hong¹⁶, H Dean Hosgood 3rd¹⁷, Chao A Hsiung¹⁸, Wei Hu¹, David J Hunter¹⁹, Lea Jessop¹, Hee Nam Kim²⁰, Yeul Hong Kim²¹, Young Tae Kim²², Robert Klein²³, Peter Kraft⁷, Qing Lan¹, Dongxin Lin²⁴, Jianjun Liu²⁵, Loic Le Marchand²⁶, Xiaolin Liang²⁷, Jolanta Lissowska²⁸, Lingeng Lu²⁹, Anthony M Magliocco³⁰, Keitaro Matsuo³¹, Sara H Olson²⁷, Irene Orlow²⁷, Jae Yong Park³², Loreall Pooler³³, Jennifer Prescott¹⁰, Radhai Rastogi²⁷, Harvey A Risch²⁹, Fredrick Schumacher¹⁴, Adeline Seow³⁴, Veronica Wendy Setiawan¹⁴, Hongbing Shen³⁵, Xin Sheng³³, Min-Ho Shin³⁶, Xiao-Ou Shu³⁷, David VanDen Berg¹⁴, Jiu-Cun Wang³⁸, Nicolas Wentzensen¹, Maria Pik Wong³⁹, Chen Wu²⁴, Tangchun Wu⁴⁰, Yi-Long Wu⁴¹, Lucy Xia³³, Hannah P Yang¹, Pan-Chyr Yang⁴², Wei Zheng⁴³, Baosen Zhou⁴⁴, Christian C Abnet¹, Demetrius Albanes¹, Melinda C Aldrich⁴⁵, Christopher Amos⁴⁶, Laufey T Amundadottir¹, Sonja I Berndt¹, William J Blot⁴⁷, Cathryn H Bock⁴⁸, Paige M Bracci⁴⁹, Laurie Burdett², Julie E Buring⁵⁰, Mary A Butler⁵¹, Tania Carreón⁵¹, Nilanjan Chatterjee¹, Charles C Chung², Michael B Cook¹, Michael Cullen², Faith G Davis⁵², Ti Ding⁵³, Eric J Duell⁵⁴, Caroline G Epstein¹, Jin-Hu Fan⁵⁵, Jonine D Figueroa¹, Joseph F Fraumeni Jr¹, Neal D Freedman¹, Charles S Fuchs⁵⁶, Yu-Tang Gao⁵⁷, Susan M Gapstur¹³, Ana Patiño-Garcia⁵⁸, Montserrat Garcia-Closas⁵⁹, J Michael Gaziano⁶⁰, Graham G Giles⁶¹, Elizabeth M Gillanders⁶², Edward L Giovannucci⁶³, Lynn Goldin¹, Alisa M Goldstein¹, Mark H Greene¹, Goran Hallmans⁶⁴, Curtis C Harris⁶⁵, Roger Henriksson⁶⁶, Elizabeth A Holly⁴⁹, Robert N Hoover¹, Nan Hu¹, Amy Hutchinson², Mazda Jenab⁶⁷, Christoffer Johansen⁶⁸, Kay-Tee Khaw⁶⁹, Woon-Puay Koh⁷⁰, Laurence N Kolonel²⁶, Charles Kooperberg⁶, Vittorio Krogh⁷¹, Robert C Kurtz⁷², Andrea LaCroix⁶, Annelie Landgren¹, Maria Teresa Landi¹, Donghui Li⁷³, Linda M Liao¹, Nuria Malats⁷⁴, Katherine A McGlynn¹, Lorna H McNeill⁷⁵, Robert R McWilliams⁷⁶, Beatrice S Melin⁶⁶, Lisa Mirabello¹, Beata Peplonska⁷⁷, Ulrike Peters⁶, Gloria M Petersen⁷⁸, Ludmila Prokunina-Olsson¹, Mark Purdue¹, You-Lin Qiao⁷⁹, Kari G Rabe⁷⁸, Preetha Rajaraman¹, Francisco X Real⁸⁰, Elio Riboli⁸¹, Benjamín Rodríguez-Santiago⁸², Nathaniel Rothman¹, Avima M Ruder⁵¹, Sharon A Savage¹, Ann G Schwartz⁴⁸, Kendra L Schwartz⁸³, Howard D Sesso⁵⁰, Gianluca Severi⁸⁴, Debra T Silverman¹, Margaret R Spitz⁸⁵, Victoria L Stevens¹³, Rachael Stolzenberg-Solomon¹, Daniel Stram¹⁴, Ze-Zhong Tang⁵³, Philip R Taylor¹, Lauren R Teras¹³, Geoffrey S Tobias¹, Kala Viswanathan⁸⁶, Sholom Wacholder¹, Zhaoming Wang², Stephanie J Weinstein¹, William Wheeler⁸⁷, Emily White⁶, John K Wiencke⁸⁸, Brian M Wolpin⁵⁶, Xifeng Wu⁸⁹, Jay S Wunder⁹⁰, Kai Yu¹, Krista A Zanetti⁶², Anne Zeleniuch-Jacquotte⁹¹, Regina G Ziegler¹, Mariza de Andrade⁷⁸, Kathleen C Barnes⁹², Terri H Beaty⁸⁶, Laura J Bierut⁹³, Karl C Desch⁹⁴, Kimberly F Doheny⁹⁵, Bjarke Feenstra⁹⁶, David Ginsburg⁹⁷, John A Heit⁹⁸, Jae H Kang⁹⁹, Cecilia A Laurie¹⁰⁰, Jun Z Li¹⁰¹, William L Lowe¹⁰², Mary L Marazita¹⁰³, Mads Melbye¹⁰⁴, Daniel B Mirel¹⁰⁵, Jeffrey C Murray¹⁰⁶, Sarah C Nelson¹⁰⁰, Louis R Pasquale¹⁰⁷, Kenneth Rice¹⁰⁰, Janey L Wiggs¹⁰⁸, Anastasia Wise¹⁰⁹, Margaret Tucker¹, Luis A Pérez-Jurado¹¹⁰, Cathy C Laurie¹⁰⁰, Neil E Caporaso¹, Meredith Yeager², Stephen J Chanock¹¹¹

Affiliations

¹ Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
² Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
³ Laboratory of Experimental Immunology, Center for Cancer Research, National Cancer Institute at Frederick, NIH, Frederick, MD 21702, USA.
⁴ Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA; BioInformed LLC, Gaithersburg, MD 20877, USA.
⁵ National Institute of Cancer Research, National Health Research Institutes, Zhunan 35053, Taiwan, ROC.
⁶ Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
⁷ Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA.
⁸ Department of Epidemiology and Biostatistics, Tianjin Medical University Cancer Institute and Hospital, Tianjin 300040, People's Republic of China.
⁹ University of New Mexico, Albuquerque, NM 87131, USA.
¹⁰ Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
¹¹ Geisel School of Medicine, Dartmouth College, Lebanon, NH 03755, USA.
¹² Department of Population Health Research, CancerControl Alberta, Alberta Health Services, Calgary, AB T2N 2T9, Canada.
¹³ Epidemiology Research Program, American Cancer Society, Atlanta, GA 30303, USA.
¹⁴ Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
¹⁵ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Biostatistics and Epidemiology, School of Public Health and Health Sciences, University of Massachusetts Amherst, Amherst, MA 01003, USA.
¹⁶ Department of Preventive Medicine, College of Medicine, Seoul National University, Seoul 151-742, Republic of Korea.
¹⁷ Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
¹⁸ Institute of Population Health Sciences, National Health Research Institutes, Zhunan 35053, Taiwan, ROC.
¹⁹ Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
²⁰ Center for Creative Biomedical Scientists, Chonnam National University, Gwangju 500-757, Republic of Korea.
²¹ Division of Oncology/Hematology, Department of Internal Medicine, College of Medicine, Korea University Anam Hospital, Seoul 151-742, Republic of Korea.
²² Department of Thoracic and Cardiovascular Surgery, Cancer Research Institute, College of Medicine, Seoul National University, Seoul 151-742, Republic of Korea.
²³ Program in Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
²⁴ Department of Etiology & Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China; State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China.
²⁵ Department of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore; School of Life Sciences, Anhui Medical University, Hefei 230032, People's Republic of China.
²⁶ Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
²⁷ Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
²⁸ Department of Cancer Epidemiology and Prevention, Maria Sklodowska-Curie Cancer Center and Institute of Oncology, Warsaw 02-781, Poland.
²⁹ Yale School of Public Health, New Haven, CT 06510, USA.
³⁰ H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA.
³¹ Department of Preventive Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka 819-0395, Japan.
³² Lung Cancer Center, Kyungpook National University Medical Center, Daegu 101, Republic of Korea.
³³ Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90007, USA.
³⁴ Saw Swee Hock School of Public Health, National University of Singapore, Singapore 119077, Singapore.
³⁵ Jiangsu Key Laboratory of Cancer Biomarkers, Prevention, and Treatment, Nanjing Medical University, Nanjing 210029, People's Republic of China; Ministry of Education Key Laboratory of Modern Toxicology, Nanjing Medical University, Nanjing 210029, People's Republic of China.
³⁶ Department of Preventive Medicine, Chonnam National University Medical School, Gwanju 501-746, Republic of Korea.
³⁷ Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
³⁸ Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China.
³⁹ Department of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong SAR, People's Republic of China.
⁴⁰ Institute of Occupational Medicine and Ministry of Education Key Laboratory for Environment and Health, School of Public Health, Huazhong University of Science and Technology, Wuhan 430400, People's Republic of China.
⁴¹ Guangdong Lung Cancer Institute, Guangdong General Hospital and Guangdong Academy of Medical Sciences, Guangzhou 515200, People's Republic of China.
⁴² Department of Internal Medicine, College of Medicine, National Taiwan University, Taipei 10617, Taiwan, ROC.
⁴³ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
⁴⁴ Department of Epidemiology, School of Public Health, China Medical University, Shenyang 110001, People's Republic of China.
⁴⁵ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Department of Thoracic Surgery, School of Medicine, Vanderbilt University, Nashville, TN 37232, USA.
⁴⁶ Department of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁴⁷ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA; International Epidemiology Institute, Rockville, MD 20850, USA.
⁴⁸ Karmanos Cancer Institute and Department of Oncology, School of Medicine, Wayne State University, Detroit, MI 48201, USA.
⁴⁹ Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94143, USA.
⁵⁰ Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
⁵¹ National Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, OH 45226, USA.
⁵² Department of Public Health Sciences, School of Public Health, University of Alberta, Edmonton, AB T6G 2R3, Canada.
⁵³ Shanxi Cancer Hospital, Taiyuan, Shanxi 030013, People's Republic of China.
⁵⁴ Unit of Nutrition, Environment, and Cancer, Cancer Epidemiology Research Program, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute,, Barcelona 08908, Spain.
⁵⁵ Shanghai Cancer Institute, Shanghai 200032, People's Republic of China.
⁵⁶ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
⁵⁷ Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, School of Medicine, Shanghai Jiaotaong University Shanghai 200032, People's Republic of China.
⁵⁸ Department of Pediatrics, University Clinic of Navarra, Universidad de Navarra, Pamplona 31080, Spain.
⁵⁹ Division of Genetics and Epidemiology and Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, Surrey SM2 5NG, UK.
⁶⁰ Divisions of Preventive Medicine and Aging, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Massachusetts Veterans Epidemiology Research and Information Center and Cooperative Studies Programs, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA.
⁶¹ Cancer Epidemiology Centre, Cancer Council Victoria and Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
⁶² Division of Cancer Control and Population Sciences, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
⁶³ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
⁶⁴ Nutritional Research Unit, Department of Public Health and Clinical Medicine, Umeå University, Umeå 901 87, Sweden.
⁶⁵ Laboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
⁶⁶ Department of Oncology, Department of Radiation Sciences, Umeå University, Umeå 901 87, Sweden.
⁶⁷ International Agency for Research on Cancer, Lyon 69372, France.
⁶⁸ Department of Oncology, Finsen Centre, Rigshospitalet, Copenhagen 2100, Denmark; Unit of Survivorship Research, Danish Cancer Society Research Centre, Copenhagen 2100, Denmark.
⁶⁹ School of Clinical Medicine, University of Cambridge, Cambridge CB2 1TN, UK.
⁷⁰ Saw Swee Hock School of Public Health, National University of Singapore, Singapore 119077, Singapore; Duke-NUS Graduate Medical School, Singapore 169857, Singapore.
⁷¹ Fondazione IRCCS Istituto Nazionale dei Tumori, Milano 20133, Italy.
⁷² Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
⁷³ Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁷⁴ Spanish National Cancer Research Centre, Madrid 28029, Spain.
⁷⁵ Department of Health Disparities Research, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA; Center for Community-Engaged Translational Research, Duncan Family Institute, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁷⁶ Department of Oncology, Mayo Clinic, Rochester, MN 55905, USA.
⁷⁷ Nofer Institute of Occupational Medicine, Lodz 91-348, Poland.
⁷⁸ Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
⁷⁹ Department of Epidemiology, Cancer Institute, Chinese Academy of Medical Sciences, Beijing 100730, People's Republic of China.
⁸⁰ Spanish National Cancer Research Centre, Madrid 28029, Spain; Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain.
⁸¹ Division of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2AZ, UK.
⁸² Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona 08003, Spain; Quantitative Genomic Medicine Laboratory, qGenomics, Barcelona 08003, Spain.
⁸³ Karmanos Cancer Institute and Department of Family Medicine and Public Health Sciences, School of Medicine, Wayne State University, Detroit, MI 48201, USA.
⁸⁴ Cancer Epidemiology Centre, Cancer Council Victoria and Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia; Human Genetics Foundation, Torino 10126, Italy.
⁸⁵ Baylor College of Medicine, Houston, TX 77030, USA.
⁸⁶ Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21218, USA.
⁸⁷ Information Management Services Inc., Calverton, MD 20904, USA.
⁸⁸ University of California, San Francisco, San Francisco, CA 94143, USA.
⁸⁹ Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁹⁰ Division of Urologic Surgery, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA.
⁹¹ Department of Population Health, School of Medicine, New York University, New York, NY 10016, USA; Perlmutter Cancer Institute, New York University, New York, NY 10016, USA.
⁹² School of Medicine, Johns Hopkins University, Baltimore, MD 21218, USA.
⁹³ Department of Psychiatry, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA.
⁹⁴ Department of Pediatrics and Communicable Diseases, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, MI 48109, USA.
⁹⁵ Center for Inherited Disease Research, Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21218, USA.
⁹⁶ Department of Epidemiology Research, Statens Serum Institut, Copenhagen 2300, Denmark.
⁹⁷ Howard Hughes Medical Institute and Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
⁹⁸ Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
⁹⁹ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
¹⁰⁰ Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
¹⁰¹ Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
¹⁰² Division of Endocrinology, Metabolism, and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60208, USA.
¹⁰³ Center for Craniofacial and Dental Genetics, Department of Oral Biology School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15260, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15260, USA.
¹⁰⁴ Department of Epidemiology Research, Statens Serum Institut, Copenhagen 2300, Denmark; Department of Medicine, School of Medicine, Stanford University, Stanford, CA 94305, USA.
¹⁰⁵ Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
¹⁰⁶ Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.
¹⁰⁷ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard University, Boston, MA 02114, USA.
¹⁰⁸ Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard University, Boston, MA 02114, USA.
¹⁰⁹ Office of Population Genomics, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
¹¹⁰ Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona 08003, Spain; Hospital del Mar Research Institute, Barcelona 08003, Spain.
¹¹¹ Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address: [email protected].

PMID: 25748358
PMCID: PMC4375431
DOI: 10.1016/j.ajhg.2015.01.011

Meta-Analysis

Characterization of large structural genetic mosaicism in human autosomes

Mitchell J Machiela et al. Am J Hum Genet. 2015.

. 2015 Mar 5;96(3):487-97.

doi: 10.1016/j.ajhg.2015.01.011.

Authors

Affiliations

¹ Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
² Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA.
³ Laboratory of Experimental Immunology, Center for Cancer Research, National Cancer Institute at Frederick, NIH, Frederick, MD 21702, USA.
⁴ Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Leidos Biomedical Research Inc., Bethesda, MD 20892, USA; BioInformed LLC, Gaithersburg, MD 20877, USA.
⁵ National Institute of Cancer Research, National Health Research Institutes, Zhunan 35053, Taiwan, ROC.
⁶ Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
⁷ Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA.
⁸ Department of Epidemiology and Biostatistics, Tianjin Medical University Cancer Institute and Hospital, Tianjin 300040, People's Republic of China.
⁹ University of New Mexico, Albuquerque, NM 87131, USA.
¹⁰ Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
¹¹ Geisel School of Medicine, Dartmouth College, Lebanon, NH 03755, USA.
¹² Department of Population Health Research, CancerControl Alberta, Alberta Health Services, Calgary, AB T2N 2T9, Canada.
¹³ Epidemiology Research Program, American Cancer Society, Atlanta, GA 30303, USA.
¹⁴ Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
¹⁵ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Biostatistics and Epidemiology, School of Public Health and Health Sciences, University of Massachusetts Amherst, Amherst, MA 01003, USA.
¹⁶ Department of Preventive Medicine, College of Medicine, Seoul National University, Seoul 151-742, Republic of Korea.
¹⁷ Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
¹⁸ Institute of Population Health Sciences, National Health Research Institutes, Zhunan 35053, Taiwan, ROC.
¹⁹ Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
²⁰ Center for Creative Biomedical Scientists, Chonnam National University, Gwangju 500-757, Republic of Korea.
²¹ Division of Oncology/Hematology, Department of Internal Medicine, College of Medicine, Korea University Anam Hospital, Seoul 151-742, Republic of Korea.
²² Department of Thoracic and Cardiovascular Surgery, Cancer Research Institute, College of Medicine, Seoul National University, Seoul 151-742, Republic of Korea.
²³ Program in Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
²⁴ Department of Etiology & Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China; State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China.
²⁵ Department of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore; School of Life Sciences, Anhui Medical University, Hefei 230032, People's Republic of China.
²⁶ Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
²⁷ Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
²⁸ Department of Cancer Epidemiology and Prevention, Maria Sklodowska-Curie Cancer Center and Institute of Oncology, Warsaw 02-781, Poland.
²⁹ Yale School of Public Health, New Haven, CT 06510, USA.
³⁰ H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA.
³¹ Department of Preventive Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka 819-0395, Japan.
³² Lung Cancer Center, Kyungpook National University Medical Center, Daegu 101, Republic of Korea.
³³ Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90007, USA.
³⁴ Saw Swee Hock School of Public Health, National University of Singapore, Singapore 119077, Singapore.
³⁵ Jiangsu Key Laboratory of Cancer Biomarkers, Prevention, and Treatment, Nanjing Medical University, Nanjing 210029, People's Republic of China; Ministry of Education Key Laboratory of Modern Toxicology, Nanjing Medical University, Nanjing 210029, People's Republic of China.
³⁶ Department of Preventive Medicine, Chonnam National University Medical School, Gwanju 501-746, Republic of Korea.
³⁷ Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
³⁸ Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China.
³⁹ Department of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong SAR, People's Republic of China.
⁴⁰ Institute of Occupational Medicine and Ministry of Education Key Laboratory for Environment and Health, School of Public Health, Huazhong University of Science and Technology, Wuhan 430400, People's Republic of China.
⁴¹ Guangdong Lung Cancer Institute, Guangdong General Hospital and Guangdong Academy of Medical Sciences, Guangzhou 515200, People's Republic of China.
⁴² Department of Internal Medicine, College of Medicine, National Taiwan University, Taipei 10617, Taiwan, ROC.
⁴³ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
⁴⁴ Department of Epidemiology, School of Public Health, China Medical University, Shenyang 110001, People's Republic of China.
⁴⁵ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Department of Thoracic Surgery, School of Medicine, Vanderbilt University, Nashville, TN 37232, USA.
⁴⁶ Department of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁴⁷ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA; International Epidemiology Institute, Rockville, MD 20850, USA.
⁴⁸ Karmanos Cancer Institute and Department of Oncology, School of Medicine, Wayne State University, Detroit, MI 48201, USA.
⁴⁹ Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94143, USA.
⁵⁰ Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
⁵¹ National Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, OH 45226, USA.
⁵² Department of Public Health Sciences, School of Public Health, University of Alberta, Edmonton, AB T6G 2R3, Canada.
⁵³ Shanxi Cancer Hospital, Taiyuan, Shanxi 030013, People's Republic of China.
⁵⁴ Unit of Nutrition, Environment, and Cancer, Cancer Epidemiology Research Program, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute,, Barcelona 08908, Spain.
⁵⁵ Shanghai Cancer Institute, Shanghai 200032, People's Republic of China.
⁵⁶ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
⁵⁷ Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, School of Medicine, Shanghai Jiaotaong University Shanghai 200032, People's Republic of China.
⁵⁸ Department of Pediatrics, University Clinic of Navarra, Universidad de Navarra, Pamplona 31080, Spain.
⁵⁹ Division of Genetics and Epidemiology and Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, Surrey SM2 5NG, UK.
⁶⁰ Divisions of Preventive Medicine and Aging, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Massachusetts Veterans Epidemiology Research and Information Center and Cooperative Studies Programs, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA.
⁶¹ Cancer Epidemiology Centre, Cancer Council Victoria and Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
⁶² Division of Cancer Control and Population Sciences, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
⁶³ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
⁶⁴ Nutritional Research Unit, Department of Public Health and Clinical Medicine, Umeå University, Umeå 901 87, Sweden.
⁶⁵ Laboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
⁶⁶ Department of Oncology, Department of Radiation Sciences, Umeå University, Umeå 901 87, Sweden.
⁶⁷ International Agency for Research on Cancer, Lyon 69372, France.
⁶⁸ Department of Oncology, Finsen Centre, Rigshospitalet, Copenhagen 2100, Denmark; Unit of Survivorship Research, Danish Cancer Society Research Centre, Copenhagen 2100, Denmark.
⁶⁹ School of Clinical Medicine, University of Cambridge, Cambridge CB2 1TN, UK.
⁷⁰ Saw Swee Hock School of Public Health, National University of Singapore, Singapore 119077, Singapore; Duke-NUS Graduate Medical School, Singapore 169857, Singapore.
⁷¹ Fondazione IRCCS Istituto Nazionale dei Tumori, Milano 20133, Italy.
⁷² Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
⁷³ Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁷⁴ Spanish National Cancer Research Centre, Madrid 28029, Spain.
⁷⁵ Department of Health Disparities Research, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA; Center for Community-Engaged Translational Research, Duncan Family Institute, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁷⁶ Department of Oncology, Mayo Clinic, Rochester, MN 55905, USA.
⁷⁷ Nofer Institute of Occupational Medicine, Lodz 91-348, Poland.
⁷⁸ Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
⁷⁹ Department of Epidemiology, Cancer Institute, Chinese Academy of Medical Sciences, Beijing 100730, People's Republic of China.
⁸⁰ Spanish National Cancer Research Centre, Madrid 28029, Spain; Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain.
⁸¹ Division of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2AZ, UK.
⁸² Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona 08003, Spain; Quantitative Genomic Medicine Laboratory, qGenomics, Barcelona 08003, Spain.
⁸³ Karmanos Cancer Institute and Department of Family Medicine and Public Health Sciences, School of Medicine, Wayne State University, Detroit, MI 48201, USA.
⁸⁴ Cancer Epidemiology Centre, Cancer Council Victoria and Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia; Human Genetics Foundation, Torino 10126, Italy.
⁸⁵ Baylor College of Medicine, Houston, TX 77030, USA.
⁸⁶ Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21218, USA.
⁸⁷ Information Management Services Inc., Calverton, MD 20904, USA.
⁸⁸ University of California, San Francisco, San Francisco, CA 94143, USA.
⁸⁹ Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁹⁰ Division of Urologic Surgery, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA.
⁹¹ Department of Population Health, School of Medicine, New York University, New York, NY 10016, USA; Perlmutter Cancer Institute, New York University, New York, NY 10016, USA.
⁹² School of Medicine, Johns Hopkins University, Baltimore, MD 21218, USA.
⁹³ Department of Psychiatry, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA.
⁹⁴ Department of Pediatrics and Communicable Diseases, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, MI 48109, USA.
⁹⁵ Center for Inherited Disease Research, Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21218, USA.
⁹⁶ Department of Epidemiology Research, Statens Serum Institut, Copenhagen 2300, Denmark.
⁹⁷ Howard Hughes Medical Institute and Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
⁹⁸ Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
⁹⁹ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
¹⁰⁰ Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
¹⁰¹ Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
¹⁰² Division of Endocrinology, Metabolism, and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60208, USA.
¹⁰³ Center for Craniofacial and Dental Genetics, Department of Oral Biology School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15260, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15260, USA.
¹⁰⁴ Department of Epidemiology Research, Statens Serum Institut, Copenhagen 2300, Denmark; Department of Medicine, School of Medicine, Stanford University, Stanford, CA 94305, USA.
¹⁰⁵ Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
¹⁰⁶ Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.
¹⁰⁷ Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard University, Boston, MA 02114, USA.
¹⁰⁸ Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard University, Boston, MA 02114, USA.
¹⁰⁹ Office of Population Genomics, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
¹¹⁰ Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona 08003, Spain; Hospital del Mar Research Institute, Barcelona 08003, Spain.
¹¹¹ Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address: [email protected].

PMID: 25748358
PMCID: PMC4375431
DOI: 10.1016/j.ajhg.2015.01.011

Abstract

Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 × 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.

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Figures

**Figure 1**
Genomic Locations of the Combined 1,334 Events Overall and by Cancer Status Green indicates mosaic copy gains, blue represents mosaic copy-neutral events, and red represents mosaic losses. (A) All 1,334 events from the combined GENEVA, TGSI, and TGSII analysis. (B) Events in cancer-free control individuals. (C) Events in individuals with solid tumors.

**Figure 2**
Proportion of Mosaic Individuals across 5-Year Age Groups in the Combined GENEVA, TGSI, and TGSII Dataset by Cancer Status Affected individuals are in red, and cancer-free control individuals are in blue. Error bars represent 95% CIs. An overall significant relationship in the proportion of individuals with mosaic events was observed with age (p value = 1.1×10⁻³⁰).

**Figure 3**
Forest Plots of Associations with Clonal Mosaicism Associations between clonal mosaicism and (A) age-group, (B) gender, and (C) ancestry.

**Figure 4**
Relationship between Mosaic Event Size and Detected Rate Counts of detected mosaic events from the combined analysis are plotted in 10-Mb bin sizes. An inverse exponential trend, represented by the dotted line, was fit to the counts (R² = 0.81). Fitted coefficients (β) and 95% CIs are displayed in the plot.

**Figure 5**
Event Size and Mosaic-Proportion Distribution across Copy-Number State Violin plots of combined sample event size (A) and mosaic proportion (B) in relationship to mosaic copy gains, copy-neutral uniparental disomies, and copy losses. Boxplots with white circles denoting the median and thick black boxes representing the interquartile range are encapsulated in kernel density plots of the distribution of event length. Numbers below and above the violin plots of mosaic proportion (B) indicate the minimum and maximum detected range observed for each respective event’s copy-number state.

**Figure 6**
Characterization of Changes in Mosaic Proportion with Age Mosaic proportion is stratified across event copy-number state (columns) and age category (x axis) from the combined analysis. Points represent estimates of the mean, and error bars indicate 95% CI around the mean. Best-fit regression lines are plotted with dotted lines, and p values are shown for slopes that are significantly different from 0.

**Figure 7**
Changes in Percentage of Mosaicism of Serial Samples over Time (A) Lines (red for copy loss, blue for copy neutral, and green for copy gain) connect DNA-collection time points (triangles represent males, and circles represent females) for each mosaic chromosome (n = 58) to track changes in the percentage of mosaicism with increasing age. (B) Events are plotted with zero origin and a mixed model for a subject with zero random-effect fit (solid black line), showing the estimated average change in mosaic proportion per year (1.44%, p value = 3.3 × 10⁻⁷).

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References

1. Strachan T., Read A. Wiley-Liss; New York: 1999. Human Molecular Genetics.
1. Hall J.G. Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am. J. Hum. Genet. 1988;43:355–363. - PMC - PubMed
1. Machiela M.J., Chanock S.J. Detectable clonal mosaicism in the human genome. Semin. Hematol. 2013;50:348–359. - PMC - PubMed
1. Youssoufian H., Pyeritz R.E. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 2002;3:748–758. - PubMed
1. Biesecker L.G., Spinner N.B. A genomic view of mosaicism and human disease. Nat. Rev. Genet. 2013;14:307–320. - PubMed

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[1] Strachan T., Read A. Wiley-Liss; New York: 1999. Human Molecular Genetics.

[2] Strachan T., Read A. Wiley-Liss; New York: 1999. Human Molecular Genetics.

[3] Hall J.G. Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am. J. Hum. Genet. 1988;43:355–363. - PMC - PubMed

[4] Hall J.G. Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am. J. Hum. Genet. 1988;43:355–363. - PMC - PubMed

[5] Machiela M.J., Chanock S.J. Detectable clonal mosaicism in the human genome. Semin. Hematol. 2013;50:348–359. - PMC - PubMed

[6] Machiela M.J., Chanock S.J. Detectable clonal mosaicism in the human genome. Semin. Hematol. 2013;50:348–359. - PMC - PubMed

[7] Youssoufian H., Pyeritz R.E. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 2002;3:748–758. - PubMed

[8] Youssoufian H., Pyeritz R.E. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 2002;3:748–758. - PubMed

[9] Biesecker L.G., Spinner N.B. A genomic view of mosaicism and human disease. Nat. Rev. Genet. 2013;14:307–320. - PubMed

[10] Biesecker L.G., Spinner N.B. A genomic view of mosaicism and human disease. Nat. Rev. Genet. 2013;14:307–320. - PubMed

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Characterization of large structural genetic mosaicism in human autosomes

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Characterization of large structural genetic mosaicism in human autosomes

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