Author(s): Laurie CC, Laurie CA, Rice K, Doheny KF, Zelnick LR,
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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).
This article was published in Nat Genet
and referenced in Biochemistry & Analytical Biochemistry