Need Help?

The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients

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 novel 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 novel genomic footprint that enables characterization of the telomere maintenance mechanism of tumours and liquid biopsy analysis.

Request Access

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001005812 Cancer Genomics

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00007257090 cram 10.7 GB
EGAF00007257093 cram 13.5 GB
EGAF00007257095 cram 13.4 GB
EGAF00007257097 cram 12.8 GB
EGAF00007257098 cram 12.7 GB
EGAF00007257099 cram 11.5 GB
EGAF00007257100 cram 12.9 GB
EGAF00007257101 cram 11.0 GB
EGAF00007257104 cram 10.5 GB
EGAF00007257107 cram 13.2 GB
EGAF00007257109 cram 13.2 GB
EGAF00007257111 cram 12.6 GB
EGAF00007257112 cram 12.4 GB
EGAF00007257113 cram 11.3 GB
EGAF00007257114 cram 12.6 GB
EGAF00007257115 cram 10.8 GB
EGAF00007257118 cram 10.9 GB
EGAF00007257121 cram 13.7 GB
EGAF00007257123 cram 13.6 GB
EGAF00007257125 cram 13.0 GB
EGAF00007257126 cram 12.8 GB
EGAF00007257127 cram 11.7 GB
EGAF00007257128 cram 13.1 GB
EGAF00007257129 cram 11.1 GB
EGAF00007257132 cram 10.3 GB
EGAF00007257135 cram 13.0 GB
EGAF00007257137 cram 12.9 GB
EGAF00007257139 cram 12.2 GB
EGAF00007257140 cram 12.1 GB
EGAF00007257141 cram 11.0 GB
EGAF00007257142 cram 12.5 GB
EGAF00007257143 cram 10.5 GB
EGAF00007257146 cram 10.5 GB
EGAF00007257149 cram 13.2 GB
EGAF00007257151 cram 13.1 GB
EGAF00007257153 cram 12.5 GB
EGAF00007257154 cram 12.2 GB
EGAF00007257155 cram 11.3 GB
EGAF00007257156 cram 12.6 GB
EGAF00007257157 cram 10.7 GB
EGAF00007257159 cram 12.6 GB
EGAF00007257160 cram 11.0 GB
EGAF00007257163 cram 12.0 GB
EGAF00007257165 cram 11.3 GB
EGAF00007257166 cram 11.5 GB
EGAF00007257167 cram 11.4 GB
EGAF00007257169 cram 12.6 GB
EGAF00007257170 cram 9.4 GB
EGAF00007257173 cram 12.5 GB
EGAF00007257174 cram 10.9 GB
EGAF00007257177 cram 11.9 GB
EGAF00007257179 cram 11.2 GB
EGAF00007257180 cram 11.4 GB
EGAF00007257181 cram 11.4 GB
EGAF00007257183 cram 12.5 GB
EGAF00007257184 cram 9.7 GB
EGAF00007257187 cram 12.3 GB
EGAF00007257188 cram 10.7 GB
EGAF00007257191 cram 11.7 GB
EGAF00007257193 cram 11.0 GB
EGAF00007257194 cram 11.2 GB
EGAF00007257195 cram 11.2 GB
EGAF00007257197 cram 12.3 GB
EGAF00007257198 cram 9.9 GB
EGAF00007277343 cram 14.0 GB
EGAF00007277347 cram 11.5 GB
EGAF00007277349 cram 10.7 GB
EGAF00007277350 cram 10.3 GB
EGAF00007277352 cram 10.3 GB
EGAF00007277353 cram 11.3 GB
EGAF00007277354 cram 12.0 GB
EGAF00007277356 cram 10.9 GB
EGAF00007277357 cram 14.1 GB
EGAF00007277361 cram 11.5 GB
EGAF00007277363 cram 10.6 GB
EGAF00007277364 cram 10.1 GB
EGAF00007277366 cram 10.4 GB
EGAF00007277367 cram 11.4 GB
EGAF00007277368 cram 12.2 GB
EGAF00007277370 cram 11.0 GB
80 Files (941.4 GB)