{"entity": "publication", "iuid": "33a6d34eb27440b88b9df98a9fcc398f", "timestamp": "2026-08-26T22:47:36.222Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/33a6d34eb27440b88b9df98a9fcc398f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/33a6d34eb27440b88b9df98a9fcc398f"}}, "title": "Patterns of somatic structural variation in human cancer genomes.", "authors": [{"family": "Li", "given": "Yilong", "initials": "Y"}, {"family": "Roberts", "given": "Nicola D", "initials": "ND"}, {"family": "Wala", "given": "Jeremiah A", "initials": "JA"}, {"family": "Shapira", "given": "Ofer", "initials": "O"}, {"family": "Schumacher", "given": "Steven E", "initials": "SE"}, {"family": "Kumar", "given": "Kiran", "initials": "K"}, {"family": "Khurana", "given": "Ekta", "initials": "E"}, {"family": "Waszak", "given": "Sebastian", "initials": "S"}, {"family": "Korbel", "given": "Jan O", "initials": "JO"}, {"family": "Haber", "given": "James E", "initials": "JE"}, {"family": "Imielinski", "given": "Marcin", "initials": "M"}, {"family": "PCAWG Structural Variation Working Group", "given": "", "initials": ""}, {"family": "Weischenfeldt", "given": "Joachim", "initials": "J"}, {"family": "Beroukhim", "given": "Rameen", "initials": "R"}, {"family": "Campbell", "given": "Peter J", "initials": "PJ"}, {"family": "PCAWG Consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2020-02-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "578", "issue": "7793", "pages": "112-121", "issn-l": "0028-0836"}, "abstract": "A key mutational process in cancer is structural variation, in which rearrangements delete, amplify or reorder genomic segments that range in size from kilobases to whole chromosomes1-7. Here we develop methods to group, classify and describe somatic structural variants, using data from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumour types8. Sixteen signatures of structural variation emerged. Deletions have a multimodal size distribution, assort unevenly across tumour types and patients, are enriched in late-replicating regions and correlate with inversions. Tandem duplications also have a multimodal size distribution, but are enriched in early-replicating regions-as are unbalanced translocations. Replication-based mechanisms of rearrangement generate varied chromosomal structures with low-level copy-number gains and frequent inverted rearrangements. One prominent structure consists of 2-7 templates copied from distinct regions of the genome strung together within one locus. Such cycles of templated insertions correlate with tandem duplications, and-in liver cancer-frequently activate the telomerase gene TERT. A wide variety of rearrangement processes are active in cancer, which generate complex configurations of the genome upon which selection can act.", "doi": "10.1038/s41586-019-1913-9", "pmid": "32025012", "labels": [], "xrefs": [{"db": "mid", "key": "EMS84967"}, {"db": "pmc", "key": "PMC7025897"}, {"db": "pii", "key": "10.1038/s41586-019-1913-9"}], "notes": [], "created": "2026-08-20T08:56:01.333Z", "modified": "2026-08-20T08:56:01.380Z"}