Detectable clonal mosaicism from birth to old age and its relationship to cancer

Cathy C. Laurie, Cecelia A. Laurie, Kenneth Rice, Kimberly F. Doheny, Leila R. Zelnick, Caitlin P. McHugh, Hua Ling, Kurt N. Hetrick, Elizabeth W. Pugh, Chris Amos, Qingyi Wei, Li E. Wang, Jeffrey E. Lee, Kathleen C. Barnes, Nadia N. Hansel, Rasika Mathias, Denise Daley, Terri H. Beaty, Alan F. Scott, Ingo RuczinskiRob B. Scharpf, Laura J. Bierut, Sarah M. Hartz, Maria Teresa Landi, Neal D. Freedman, Lynn R. Goldin, David Ginsburg, Jun Li, Karl C. Desch, Sara S. Strom, William J. Blot, Lisa B. Signorello, Sue A. Ingles, Stephen J. Chanock, Sonja I. Berndt, Loic Le Marchand, Brian E. Henderson, Kristine R. Monroe, John A. Heit, Mariza De Andrade, Sebastian M. Armasu, Cynthia Regnier, William L. Lowe, M. Geoffrey Hayes, Mary L. Marazita, Eleanor Feingold, Jeffrey C. Murray, Mads Melbye, Bjarke Feenstra, Jae H. Kang, Janey L. Wiggs, Gail P. Jarvik, Andrew N. McDavid, Venkatraman E. Seshan, Daniel B. Mirel, Andrew Crenshaw, Nataliya Sharopova, Anastasia Wise, Jess Shen, David R. Crosslin, David M. Levine, Xiuwen Zheng, Jenna I. Udren, Siiri Bennett, Sarah C. Nelson, Stephanie M. Gogarten, Matthew P. Conomos, Patrick Heagerty, Teri Manolio, Louis R. Pasquale, Christopher A. Haiman, Neil Caporaso, Bruce S. Weir

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429 Scopus citations


We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. This detection method requires a relatively high frequency of cells with the same abnormal karyotype (>5-10%; presumably of clonal origin) in the presence of normal cells. The frequency of detectable clonal mosaicism in peripheral blood is low (<0.5%) from birth until 50 years of age, after which it rapidly rises to 2-3% in the elderly. Many of the mosaic anomalies are characteristic of those found in hematological cancers and identify common deleted regions with genes previously associated with these cancers. Although only 3% of subjects with detectable clonal mosaicism had any record of hematological cancer before DNA sampling, those without a previous diagnosis have an estimated tenfold higher risk of a subsequent hematological cancer (95% confidence interval = 6-18).

Original languageEnglish
Pages (from-to)642-650
Number of pages9
JournalNature Genetics
Issue number6
StatePublished - Jun 2012


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