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Chunk #16 — RESULTS — Mosaic anomalies characteristic of hematological cancers

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Detectable clonal mosaicism from birth to old age and its relationship to cancer.
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The clonal mosaic anomalies detected in this study tend to cluster in location both within and among chromosome arms (Figure 4; Supplementary Fig. 7 and 9). Regions with multiple overlapping anomalies frequently coincide with regions of copy number change or aUPD characteristic of hematological cancers. Using the Mitelman "Recurrent Chromosome Aberrations in Cancer Database" (http://cgap.nci.nih.gov/Chromosomes/Mitelman), we found that 222 of 669 recurrent duplications and deletions found in hematological cancers have >80% overlap with at least one mosaic CNV in GENEVA subjects. Also, 77% of GENEVA mosaic CNVs have >80% overlap with the Mitelman aberrations and 48% overlap both cytological bands defining the limits of the aberration. The most common overlaps are 20q-, 13q-, 11q-, 17p-, 12+ and 8+.