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

Cathy C. Laurie, Cecelia A. Laurie, Kenneth Rice, Kimberly Doheny, Leila R. Zelnick, Caitlin P. McHugh, Hua Ling, Kurt N. Hetrick, Elizabeth Pugh, Chris Amos, Qingyi Wei, Li E. Wang, Jeffrey E. Lee, Kathleen C. Barnes, Nadia Hansel, Rasika Mathias, Denise Daley, Terri L Beaty, Alan F Scott, Ingo RuczinskiRobert 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

Research output: Contribution to journalArticle

Abstract

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 (

Original languageEnglish (US)
Pages (from-to)642-650
Number of pages9
JournalNature Genetics
Volume44
Issue number6
DOIs
StatePublished - Jun 2012

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ASJC Scopus subject areas

  • Genetics

Cite this

Laurie, C. C., Laurie, C. A., Rice, K., Doheny, K., Zelnick, L. R., McHugh, C. P., Ling, H., Hetrick, K. N., Pugh, E., Amos, C., Wei, Q., Wang, L. E., Lee, J. E., Barnes, K. C., Hansel, N., Mathias, R., Daley, D., Beaty, T. L., Scott, A. F., ... Weir, B. S. (2012). Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nature Genetics, 44(6), 642-650. https://doi.org/10.1038/ng.2271