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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-06

AUTHORS

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 Ruczinski, Rob 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

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 (<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). More... »

PAGES

642

Journal

TITLE

Nature Genetics

ISSUE

6

VOLUME

44

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.2271

DOI

http://dx.doi.org/10.1038/ng.2271

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1014329007

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22561516


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