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Nat Genet. 2012 May 6;44(6):642-50. doi: 10.1038/ng.2271.

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

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1
Department of Biostatistics, University of Washington, Seattle, Washington, USA. cclaurie@u.washington.edu

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).

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PMID:
22561516
PMCID:
PMC3366033
DOI:
10.1038/ng.2271
[Indexed for MEDLINE]
Free PMC Article

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