Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing.
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Abstract | Alterations in the structure and location of telomeres are pivotal in cancer genome evolution. Here, we applied both long-read and short-read genome sequencing to assess telomere repeat-containing structures in cancers and cancer cell lines. Using long-read genome sequences that span telomeric repeats, we defined four types of telomere repeat variations in cancer cells: neotelomeres where telomere addition heals chromosome breaks, chromosomal arm fusions spanning telomere repeats, fusions of neotelomeres, and peri-centromeric fusions with adjoined telomere and centromere repeats. These results provide a framework for the systematic study of telomeric repeats in cancer genomes, which could serve as a model for understanding the somatic evolution of other repetitive genomic elements. |
Year of Publication | 2024
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Journal | Cell genomics
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Pages | 100588
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Date Published | 06/2024
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ISSN | 2666-979X
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DOI | 10.1016/j.xgen.2024.100588
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PubMed ID | 38917803
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