1. Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing.
- Author
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Tan KT, Slevin MK, Leibowitz ML, Garrity-Janger M, Shan J, Li H, and Meyerson M
- Subjects
- Humans, Cell Line, Tumor, Genome, Human genetics, Repetitive Sequences, Nucleic Acid genetics, Centromere genetics, Telomere genetics, Neoplasms genetics
- 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., Competing Interests: Declaration of interests M.M. is a consultant for DelveBio, Isabl, and Bayer; receives research support from Bayer and Janssen; has patents for EGFR mutations for lung cancer diagnosis issued, licensed, and with royalties paid from LabCorp and has issued patents and patents pending licensed to Bayer; and was a founding advisor of, consultant to, and equity holder in Foundation Medicine, shares of which were sold to Roche. H.L. is a consultant of Integrated DNA Technologies and is on the Scientific Advisory Boards of Sentieon and Innozeen., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
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