Liquid biopsy for early detection of cancer or precision medicine

  • Background

    Telomere fusions (TFs) can lead to genomic rearrangements and have been shown to play a critical role in several types of cancer. Despite their relevance in oncology, a deeper understanding of TFs in human cancer remains limited. On the other hand, the detection of tumours in the earliest state possible is absolutely critical for treatment and prognosis of cancer.

    Technology Overview

    Scientists at EMBL-EBI, CNIC and CSIC have discovered a new type of telomere fusion that is not present in blood from healthy donors but can be detected well in the blood of cancer patients. They developed computational tools for the reliable identification of these fusions. Additionally, predictive models have been established that allow for the detection of the presence of a tumour using sequencing data from a blood sample. We hereby present an approach for a highly specific, minimally invasive and early detection of cancer. The sensitivity and false positive rate are comparable to recent liquid biopsy analysis methods. The performance of the tools is comparable across cancer stages. The tool has been validated using close to 10,000 whole genome sequencing datasets.

    Further Details

    Francesc Muyas, Manuel José Gómez Rodriguez, Isidro Cortes-Ciriano, Ignacio Flores. “The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients“, doi:
    - Good sensitivity and false positive rates values tested in more than 10,000 cancer samples
    - Very good sensitivity
    - Very high specificity
    - Similar performances across different stages, highlighting the potential of early detection of tumors in liquid biopsy


    The final goal is to develop a cancer screening and monitoring kit and a cloud-based computational solution for data analysis, thus allowing decentralized, fast and cheap analyses.


    The technology is available for out-licensing or co‑development. EMBL Heidelberg also offers a technology evaluation program.

    Priority date
    Isidro Cortés-Ciriano, Francesc Muyas Remolar, Ignacio Flores Hernández, Manuel José Gómez Rodríguez