2026-05-02T18:19:47Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/193662024-09-27T07:58:55Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Muyas, Francesc
author
Rodriguez, Manuel José Gómez
author
Cascão, Rita
author
Afonso, Angela
author
Sauer, Carolin M
author
Faria, Claudia C
author
Cortés-Ciriano, Isidro
author
Flores, Ignacio
funder
Wellcome Trust
funder
Ministerio de Ciencia e Innovación (España)
funder
Comunidad de Madrid (España)
funder
Ministerio de Ciencia, Innovación y Universidades (España)
funder
Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España)
2024-05-10T14:12:17Z
2024-05-10T14:12:17Z
2024-01-02
Nat Commun. 2024 Jan 2;15(1):82.
10.1038/s41467-023-44287-8
2041-1723
Nature communications
38167290
http://hdl.handle.net/20.500.12105/19366
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.
eng
The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients.
journal article
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The ALT pathway generates telomere_Nat Commun_2024.pdf
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https://repisalud.isciii.es/bitstreams/aa03472b-1289-41f8-b0db-d83241b05e4a/download
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The ALT pathway generates telomere_Nat Commun_2024.pdf.txt