dc.contributor.author | Muyas, Francesc | |
dc.contributor.author | Rodriguez, Manuel José Gómez | |
dc.contributor.author | Cascão, Rita | |
dc.contributor.author | Afonso, Angela | |
dc.contributor.author | Sauer, Carolin M | |
dc.contributor.author | Faria, Claudia C | |
dc.contributor.author | Cortés-Ciriano, Isidro | |
dc.contributor.author | Flores, Ignacio | |
dc.date.accessioned | 2024-05-10T14:12:17Z | |
dc.date.available | 2024-05-10T14:12:17Z | |
dc.date.issued | 2024-01-02 | |
dc.identifier.citation | Nat Commun. 2024 Jan 2;15(1):82. | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/19366 | |
dc.description.abstract | Telomere fusions (TFs) can trigger the accumulation of oncogenic alterations leading to malignant transformation and drug resistance. Despite their relevance in tumour evolution, our understanding of the patterns and consequences of TFs in human cancers remains limited. Here, we characterize the rates and spectrum of somatic TFs across >30 cancer types using whole-genome sequencing data. TFs are pervasive in human tumours with rates varying markedly across and within cancer types. In addition to end-to-end fusions, we find patterns of TFs that we mechanistically link to the activity of the alternative lengthening of telomeres (ALT) pathway. We show that TFs can be detected in the blood of cancer patients, which enables cancer detection with high specificity and sensitivity even for early-stage tumours and cancers of high unmet clinical need. Overall, we report a genomic footprint that enables characterization of the telomere maintenance mechanism of tumours and liquid biopsy analysis. | es_ES |
dc.description.sponsorship | F.M., C.S. and I.C.-C. thank EMBL and The Wellcome Trust for funding.
Sequencing experiments were supported by Cancer Research UK
award 30306 (I.C.-C.). I.F. was funded by grants from the Spanish
Ministry of Science and Innovation (PID2019-110339RB-I00) and the
Comunidad de Madrid (S2022/BMB-7245). The CNIC and CBM-SO are
supported by the Ministerio de Ciencia, Innovación y Universidades
and are Severo Ochoa Centers of Excellence (CEX2020-001041-S,
CEX2021-001154-S). R.C., A.A. and C.C.F. acknowledge the support
of Associação David Vaz, Bolsa João Lobo Antunes—GAPIC (iMM/
FMUL) and Millennium bcp. All authors thank the computational
resources provided by the European Bioinformatics Institute (EMBLEBI). The authors acknowledge the patients who kindly provided the
biological samples used for this research and the Biobanco-iMM
CAML, which enabled the collection, processing, and storage of
tumour and blood samples from glioblastoma patients. Some of the
figures were created using BioRender.com. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Nature Publishing Group | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject.mesh | Telomerase | es_ES |
dc.subject.mesh | Neoplasms | es_ES |
dc.subject.mesh | Humans | es_ES |
dc.subject.mesh | Telomere Homeostasis | es_ES |
dc.subject.mesh | Telomere | es_ES |
dc.subject.mesh | Genomics | es_ES |
dc.title | The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.identifier.pubmedID | 38167290 | es_ES |
dc.format.volume | 15 | es_ES |
dc.format.number | 1 | es_ES |
dc.format.page | 82 | es_ES |
dc.identifier.doi | 10.1038/s41467-023-44287-8 | es_ES |
dc.contributor.funder | Wellcome Trust | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | es_ES |
dc.contributor.funder | Comunidad de Madrid (España) | es_ES |
dc.contributor.funder | Ministerio de Ciencia, Innovación y Universidades (España) | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 2041-1723 | es_ES |
dc.relation.publisherversion | 10.1038/s41467-023-44287-8 | es_ES |
dc.identifier.journal | Nature communications | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Control Genético del Desarrollo y Regeneración de Órganos | es_ES |
dc.repisalud.orgCNIC | CNIC::Unidades técnicas::Bioinformática | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PID2019-110339RB-I00 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/S2022/BMB-7245 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CEX2020-001041-S | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CEX2021-001154-S | es_ES |