Journal article
Detectable clonal mosaicism and its relationship to aging and cancer
KB Jacobs, M Yeager, W Zhou, S Wacholder, Z Wang, B Rodriguez-Santiago, A Hutchinson, X Deng, C Liu, MJ Horner, M Cullen, CG Epstein, L Burdett, MC Dean, N Chatterjee, J Sampson, CC Chung, J Kovaks, SM Gapstur, VL Stevens Show all
Nature Genetics | Published : 2012
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 × 10 -8). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) ..
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Awarded by National Institutes of Health
Funding Acknowledgements
This research was supported by the Intramural Research Program and by contract number HHSN261200800001E of the US National Institutes of Health (NIH), NCI. Support for each contributing study is listed in the Supplementary Note. We thank C. Laurie and B. Weir for constructive discussion and a comparison of methodology and results for the GENEVA study. The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the National Cancer Institute, the National Institute for Occupational Safety and Health or the Maryland Cancer Registry.