@article{3155700,
    title = "Detectable clonal mosaicism and its relationship to aging and cancer",
    author = "Jacobs, Kevin B. and Yeager, Meredith and Zhou, Weiyin and Wacholder, and Sholom and Wang, Zhaoming and Rodriguez-Santiago, Benjamin and and Hutchinson, Amy and Deng, Xiang and Liu, Chenwei and Horner, and Marie-Josephe and Cullen, Michael and Epstein, Caroline G. and Burdett, and Laurie and Dean, Michael C. and Chatterjee, Nilanjan and Sampson, Joshua and and Chung, Charles C. and Kovaks, Joseph and Gapstur, Susan M. and and Stevens, Victoria L. and Teras, Lauren T. and Gaudet, Mia M. and and Albanes, Demetrius and Weinstein, Stephanie J. and Virtamo, Jarmo and and Taylor, Philip R. and Freedman, Neal D. and Abnet, Christian C. and and Goldstein, Alisa M. and Hu, Nan and Yu, Kai and Yuan, Jian-Min and Liao, and Linda and Ding, Ti and Qiao, You-Lin and Gao, Yu-Tang and Koh, Woon-Puay and and Xiang, Yong-Bing and Tang, Ze-Zhong and Fan, Jin-Hu and Aldrich, and Melinda C. and Amos, Christopher and Blot, William J. and Bock, Cathryn and H. and Gillanders, Elizabeth M. and Harris, Curtis C. and Haiman, and Christopher A. and Henderson, Brian E. and Kolonel, Laurence N. and Le and Marchand, Loic and McNeill, Lorna H. and Rybicki, Benjamin A. and and Schwartz, Ann G. and Signorello, Lisa B. and Spitz, Margaret R. and and Wiencke, John K. and Wrensch, Margaret and Wu, Xifeng and Zanetti, and Krista A. and Ziegler, Regina G. and Figueroa, Jonine D. and and Garcia-Closas, Montserrat and Malats, Nuria and Marenne, Gaelle and and Prokunina-Olsson, Ludmila and Baris, Dalsu and Schwenn, Molly and and Johnson, Alison and Landi, Maria Teresa and Goldin, Lynn and Consonni, and Dario and Bertazzi, Pier Alberto and Rotunno, Melissa and Rajaraman, and Preetha and Andersson, Ulrika and Freeman, Laura E. Beane and Berg, and Christine D. and Buring, Julie E. and Butler, Mary A. and Carreon, Tania and and Feychting, Maria and Ahlbom, Anders and Gaziano, J. Michael and and Giles, Graham G. and Hallmans, Goran and Hankinson, Susan E. and Hartge, and Patricia and Henriksson, Roger and Inskip, Peter D. and Johansen, and Christoffer and Landgren, Annelie and McKean-Cowdin, Roberta and and Michaud, Dominique S. and Melin, Beatrice S. and Peters, Ulrike and and Ruder, Avima M. and Sesso, Howard D. and Severi, Gianluca and Shu, and Xiao-Ou and Visvanathan, Kala and White, Emily and Wolk, Alicja and and Zeleniuch-Jacquotte, Anne and Zheng, Wei and Silverman, Debra T. and and Kogevinas, Manolis and Gonzalez, Juan R. and Villa, Olaya and Li, and Donghui and Duell, Eric J. and Risch, Harvey A. and Olson, Sara H. and and Kooperberg, Charles and Wolpin, Brian M. and Jiao, Li and Hassan, Manal and and Wheeler, William and Arslan, Alan A. and Bueno-de-Mesquita, H. Bas and and Fuchs, Charles S. and Gallinger, Steven and Gross, Myron D. and and Holly, Elizabeth A. and Klein, Alison P. and LaCroix, Andrea and and Mandelson, Margaret T. and Petersen, Gloria and Boutron-Ruault, and Marie-Christine and Bracci, Paige M. and Canzian, Federico and Chang, and Kenneth and Cotterchio, Michelle and Giovannucci, Edward L. and Goggins, and Michael and Bolton, Judith A. Hoffman and Jenab, Mazda and Khaw, Kay-Tee and and Krogh, Vittorio and Kurtz, Robert C. and McWilliams, Robert R. and and Mendelsohn, Julie B. and Rabe, Kari G. and Riboli, Elio and Tjonneland, and Anne and Tobias, Geoffrey S. and Trichopoulos, Dimitrios and Elena, and Joanne W. and Yu, Herbert and Amundadottir, Laufey and and Stolzenberg-Solomon, Rachael Z. and Kraft, Peter and Schumacher, and Fredrick and Stram, Daniel and Savage, Sharon A. and Mirabello, Lisa and and Andrulis, Irene L. and Wunder, Jay S. and Patino Garcia, Ana and and Sierrasesumaga, Luis and Barkauskas, Donald A. and Gorlick, Richard G. and and Purdue, Mark and Chow, Wong-Ho and Moore, Lee E. and Schwartz, and Kendra L. and Davis, Faith G. and Hsing, Ann W. and Berndt, Sonja I. and and Black, Amanda and Wentzensen, Nicolas and Brinton, Louise A. and and Lissowska, Jolanta and Peplonska, Beata and McGlynn, Katherine A. and and Cook, Michael B. and Graubard, Barry I. and Kratz, Christian P. and and Greene, Mark H. and Erickson, Ralph L. and Hunter, David J. and Thomas, and Gilles and Hoover, Robert N. and Real, Francisco X. and Fraumeni, Jr., and Joseph F. and Caporaso, Neil E. and Tucker, Margaret and Rothman, and Nathaniel and Perez-Jurado, Luis A. and Chanock, Stephen J.",
    journal = "Nature Genetics",
    year = "2012",
    volume = "44",
    number = "6",
    pages = "651-U68",
    publisher = "Nature Publishing Group",
    issn = "1061-4036, 1546-1718",
    doi = "10.1038/ng.2270",
    abstract = "In an analysis of 31,717 cancer cases and 26,136 cancer-free controls
from 13 genome-wide association studies, we observed large chromosomal
abnormalities in a subset of clones in DNA obtained from blood or buccal
samples. We observed mosaic abnormalities, either aneuploidy or
copy-neutral loss of heterozygosity, of > 2 Mb in size in autosomes of
517 individuals (0.89%), with abnormal cell proportions of between 7%
and 95%. In cancer-free individuals, frequency increased with age, from
0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 x
10(-8)). Mosaic abnormalities were more frequent in individuals with
solid tumors (0.97% versus 0.74% in cancer-free individuals; odds
ratio (OR) = 1.25; P = 0.016), with stronger association with cases who
had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005).
Detectable mosaicism was also more common in individuals for whom DNA
was collected at least 1 year before diagnosis with leukemia compared to
cancer-free individuals (OR = 35.4; P = 3.8 x 10(-11)). These findings
underscore the time-dependent nature of somatic events in the etiology
of cancer and potentially other late-onset diseases."
}