{"entity": "researcher", "timestamp": "2026-09-23T15:46:24.103Z", "family": "Cort\u00e9s-Ciriano", "given": "Isidro", "initials": "I", "orcid": "0000-0002-2036-494X", "affiliations": ["Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.", "Ludwig Center at Harvard, Boston, MA, USA.", "Centre for Molecular Science Informatics, Department of Chemistry, University of Cambridge, Cambridge, UK.", "European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e8e23f57f844b4eba1b25c6c939a46b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e8e23f57f844b4eba1b25c6c939a46b"}}, "publications": [{"entity": "publication", "iuid": "ac56e1046c9241ea88ceed67027045ca", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/ac56e1046c9241ea88ceed67027045ca.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/ac56e1046c9241ea88ceed67027045ca"}}, "title": "Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.", "authors": [{"family": "Cort\u00e9s-Ciriano", "given": "Isidro", "initials": "I", "orcid": "0000-0002-2036-494X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e8e23f57f844b4eba1b25c6c939a46b.json"}}, {"family": "Lee", "given": "Jake June-Koo", "initials": "JJ", "orcid": "0000-0003-1348-4094", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8d9fd2bb7e64f2ca9ecca1a12a571ff.json"}}, {"family": "Xi", "given": "Ruibin", "initials": "R", "orcid": "0000-0001-7545-7361", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/705a8f802f154d7ea780e17040aae299.json"}}, {"family": "Jain", "given": "Dhawal", "initials": "D"}, {"family": "Jung", "given": "Youngsook L", "initials": "YL"}, {"family": "Yang", "given": "Lixing", "initials": "L"}, {"family": "Gordenin", "given": "Dmitry", "initials": "D", "orcid": "0000-0002-8399-1836", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6eee4a40f6074adf93444293d4cb4090.json"}}, {"family": "Klimczak", "given": "Leszek J", "initials": "LJ", "orcid": "0000-0003-3048-2576", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/300db203b6e74a3e9b13a4b1c45bda0b.json"}}, {"family": "Zhang", "given": "Cheng-Zhong", "initials": "CZ", "orcid": "0000-0001-8825-7158", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6a67e0dfd8134bc784128bbb83f2764a.json"}}, {"family": "Pellman", "given": "David S", "initials": "DS"}, {"family": "PCAWG Structural Variation Working Group", "given": "", "initials": ""}, {"family": "Park", "given": "Peter J", "initials": "PJ", "orcid": "0000-0001-9378-960X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f90541a08949401180f3aadd59b251b0.json"}}, {"family": "PCAWG Consortium", "given": "", "initials": ""}], "type": "published erratum", "published": "2023-06-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "55", "issue": "6", "pages": "1076", "issn-l": "1061-4036"}, "abstract": null, "doi": "10.1038/s41588-023-01315-z", "pmid": "36944733", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10260391"}, {"db": "pii", "key": "10.1038/s41588-023-01315-z"}], "notes": [], "created": "2026-09-23T14:14:26.186Z", "modified": "2026-09-23T14:14:26.322Z"}, {"entity": "publication", "iuid": "55e3308b227443bd970a206c47067293", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/55e3308b227443bd970a206c47067293.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/55e3308b227443bd970a206c47067293"}}, "title": "Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer.", "authors": [{"family": "Sieverling", "given": "Lina", "initials": "L", "orcid": "0000-0002-0595-4976", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/73950863d82c4a31acde74bf903fc397.json"}}, {"family": "Hong", "given": "Chen", "initials": "C", "orcid": "0000-0003-1244-3506", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/387aeddfa3b04f028335406b4a71675a.json"}}, {"family": "Koser", "given": "Sandra D", "initials": "SD"}, {"family": "Ginsbach", "given": "Philip", "initials": "P"}, {"family": "Kleinheinz", "given": "Kortine", "initials": "K"}, {"family": "Hutter", "given": "Barbara", "initials": "B", "orcid": "0000-0002-9034-0329", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc945016ca9947238cc817165a5980db.json"}}, {"family": "Braun", "given": "Delia M", "initials": "DM", "orcid": "0000-0002-6059-7588", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/91b2cce746b149f4a4e1b3653114c01f.json"}}, {"family": "Cort\u00e9s-Ciriano", "given": "Isidro", "initials": "I", "orcid": "0000-0002-2036-494X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e8e23f57f844b4eba1b25c6c939a46b.json"}}, {"family": "Xi", "given": "Ruibin", "initials": "R", "orcid": "0000-0001-7545-7361", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/705a8f802f154d7ea780e17040aae299.json"}}, {"family": "Kabbe", "given": "Rolf", "initials": "R"}, {"family": "Park", "given": "Peter J", "initials": "PJ", "orcid": "0000-0001-9378-960X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f90541a08949401180f3aadd59b251b0.json"}}, {"family": "Eils", "given": "Roland", "initials": "R"}, {"family": "Schlesner", "given": "Matthias", "initials": "M", "orcid": "0000-0002-5896-4086", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee4984b636aa4be6939720ce9a9eed26.json"}}, {"family": "PCAWG-Structural Variation Working Group", "given": "", "initials": ""}, {"family": "Brors", "given": "Benedikt", "initials": "B"}, {"family": "Rippe", "given": "Karsten", "initials": "K", "orcid": "0000-0001-9951-9395", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/65b96d939a7545099b13cc36806f0c9b.json"}}, {"family": "Jones", "given": "David T W", "initials": "DTW"}, {"family": "Feuerbach", "given": "Lars", "initials": "L"}, {"family": "PCAWG Consortium", "given": "", "initials": ""}], "type": "published erratum", "published": "2022-12-08", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "13", "issue": "1", "pages": "7574", "issn-l": "2041-1723"}, "abstract": null, "doi": "10.1038/s41467-022-32328-7", "pmid": "36481818", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9731961"}, {"db": "pii", "key": "10.1038/s41467-022-32328-7"}], "notes": [], "created": "2026-09-23T15:22:49.702Z", "modified": "2026-09-23T15:22:49.769Z"}, {"entity": "publication", "iuid": "1593a920e1fc41bba66d6e6590af33df", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1593a920e1fc41bba66d6e6590af33df.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1593a920e1fc41bba66d6e6590af33df"}}, "title": "Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.", "authors": [{"family": "Cort\u00e9s-Ciriano", "given": "Isidro", "initials": "I", "orcid": "0000-0002-2036-494X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e8e23f57f844b4eba1b25c6c939a46b.json"}}, {"family": "Lee", "given": "Jake June-Koo", "initials": "JJ", "orcid": "0000-0003-1348-4094", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8d9fd2bb7e64f2ca9ecca1a12a571ff.json"}}, {"family": "Xi", "given": "Ruibin", "initials": "R", "orcid": "0000-0001-7545-7361", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/705a8f802f154d7ea780e17040aae299.json"}}, {"family": "Jain", "given": "Dhawal", "initials": "D"}, {"family": "Jung", "given": "Youngsook L", "initials": "YL"}, {"family": "Yang", "given": "Lixing", "initials": "L"}, {"family": "Gordenin", "given": "Dmitry", "initials": "D", "orcid": "0000-0002-8399-1836", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6eee4a40f6074adf93444293d4cb4090.json"}}, {"family": "Klimczak", "given": "Leszek J", "initials": "LJ", "orcid": "0000-0003-3048-2576", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/300db203b6e74a3e9b13a4b1c45bda0b.json"}}, {"family": "Zhang", "given": "Cheng-Zhong", "initials": "CZ", "orcid": "0000-0001-8825-7158", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6a67e0dfd8134bc784128bbb83f2764a.json"}}, {"family": "Pellman", "given": "David S", "initials": "DS"}, {"family": "PCAWG Structural Variation Working Group", "given": "", "initials": ""}, {"family": "Park", "given": "Peter J", "initials": "PJ", "orcid": "0000-0001-9378-960X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f90541a08949401180f3aadd59b251b0.json"}}, {"family": "PCAWG Consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2020-03-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "52", "issue": "3", "pages": "331-341", "issn-l": "1061-4036"}, "abstract": "Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer.", "doi": "10.1038/s41588-019-0576-7", "pmid": "32025003", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7058534"}, {"db": "pii", "key": "10.1038/s41588-019-0576-7"}], "notes": [], "created": "2026-09-23T06:30:24.624Z", "modified": "2026-09-23T06:30:24.949Z"}, {"entity": "publication", "iuid": "6c813685d9994c0b904c8cb75a8c31ad", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6c813685d9994c0b904c8cb75a8c31ad.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6c813685d9994c0b904c8cb75a8c31ad"}}, "title": "Genomic footprints of activated telomere maintenance mechanisms in cancer.", "authors": [{"family": "Sieverling", "given": "Lina", "initials": "L", "orcid": "0000-0002-0595-4976", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/73950863d82c4a31acde74bf903fc397.json"}}, {"family": "Hong", "given": "Chen", "initials": "C", "orcid": "0000-0003-1244-3506", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/387aeddfa3b04f028335406b4a71675a.json"}}, {"family": "Koser", "given": "Sandra D", "initials": "SD"}, {"family": "Ginsbach", "given": "Philip", "initials": "P"}, {"family": "Kleinheinz", "given": "Kortine", "initials": "K"}, {"family": "Hutter", "given": "Barbara", "initials": "B", "orcid": "0000-0002-9034-0329", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc945016ca9947238cc817165a5980db.json"}}, {"family": "Braun", "given": "Delia M", "initials": "DM", "orcid": "0000-0002-6059-7588", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/91b2cce746b149f4a4e1b3653114c01f.json"}}, {"family": "Cort\u00e9s-Ciriano", "given": "Isidro", "initials": "I", "orcid": "0000-0002-2036-494X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e8e23f57f844b4eba1b25c6c939a46b.json"}}, {"family": "Xi", "given": "Ruibin", "initials": "R", "orcid": "0000-0001-7545-7361", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/705a8f802f154d7ea780e17040aae299.json"}}, {"family": "Kabbe", "given": "Rolf", "initials": "R"}, {"family": "Park", "given": "Peter J", "initials": "PJ", "orcid": "0000-0001-9378-960X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f90541a08949401180f3aadd59b251b0.json"}}, {"family": "Eils", "given": "Roland", "initials": "R"}, {"family": "Schlesner", "given": "Matthias", "initials": "M", "orcid": "0000-0002-5896-4086", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee4984b636aa4be6939720ce9a9eed26.json"}}, {"family": "PCAWG-Structural Variation Working Group", "given": "", "initials": ""}, {"family": "Brors", "given": "Benedikt", "initials": "B"}, {"family": "Rippe", "given": "Karsten", "initials": "K", "orcid": "0000-0001-9951-9395", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/65b96d939a7545099b13cc36806f0c9b.json"}}, {"family": "Jones", "given": "David T W", "initials": "DTW"}, {"family": "Feuerbach", "given": "Lars", "initials": "L"}, {"family": "PCAWG Consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2020-02-05", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "11", "issue": "1", "pages": "733", "issn-l": "2041-1723"}, "abstract": "Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we dissect whole-genome sequencing data of over 2500 matched tumor-control samples from 36 different tumor types aggregated within the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium to characterize the genomic footprints of these mechanisms. While the telomere content of tumors with ATRX or DAXX mutations (ATRX/DAXXtrunc) is increased, tumors with TERT modifications show a moderate decrease of telomere content. One quarter of all tumor samples contain somatic integrations of telomeric sequences into non-telomeric DNA. This fraction is increased to 80% prevalence in ATRX/DAXXtrunc tumors, which carry an aberrant telomere variant repeat (TVR) distribution as another genomic marker. The latter feature includes enrichment or depletion of the previously undescribed singleton TVRs TTCGGG and TTTGGG, respectively. Our systematic analysis provides new insight into the recurrent genomic alterations associated with telomere maintenance mechanisms in cancer.", "doi": "10.1038/s41467-019-13824-9", "pmid": "32024817", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7002710"}, {"db": "pii", "key": "10.1038/s41467-019-13824-9"}], "notes": [], "created": "2026-09-23T07:29:58.614Z", "modified": "2026-09-23T07:29:58.904Z"}]}