2026-05-02T07:19:59Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/193662024-09-27T07:58:55Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc 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 author 2024-01-02 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. 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 The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients.