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Chunk #17 — 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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Common deleted regions (CDR) of mosaic anomalies in different GENEVA subjects often pinpoint genes previously associated with the hematological cancers. The following examples are shown in Supplementary Figure 7: (1) On 13q, 31 deletions have a CDR of 299 kb, containing only one gene, DLEU7, which is thought to be a tumor suppressor20. In addition, 18 deletions on 13q cover RB1 and 24 cover MiR15a and MiR16-1. Deletions in this region (13q14) represent the most common cytogenetic abnormality in chronic lymphocytic leukemia (CLL)21, which is the most common leukemia in older adults (http://seer.cancer.gov). (2) On 4q, 14 deletions have a CDR of 214 kb containing only one gene, the TET2 oncogene, which is commonly deleted in myelodysplastic syndrome (MDS), myeloproliferative disorder (MPD) and acute myeloid leukemia (AML)22. (3) On 2p, 17 deletions have a CDR of 194 kb, which contains two genes, one of which is DNMT3A, recently found to be commonly mutated in AML-M523. (4) On 22q, 11 deletions have a CDR of 153 kb, which includes three genes, one of which is PRAME, which is frequently deleted in