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.
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: https://doi.org/10.1101/2022.01.25.477771
More info and contact: https://embl-em.portals.in-part.com/vJe06G6X7mKG?utm_source=technologies&utm_medium=portal&utm_term=latest
Benefits
- 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
Applications
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.
Opportunity
The technology is available for out-licensing or co‑development. EMBL Heidelberg also offers a technology evaluation program.
The Spanish National Center for Cardiovascular Research (CNIC) is a leading international research center dedicated to understanding the basis of cardiovascular health and disease and to translating this knowledge into improved patient care.
CNIC scientific area is organized into two departments focused on Basic Research and Clinical Research, fully interconnected through six multidisciplinary programs grouped into three research areas:
1 Vascular Pathophysiology
2 Myocardial Pathophysiology
3 Cell Developmental Biology
Our portfolio include biomarkers, genetic and diagnostic tools, animal models and treatments for cardiovascular, inflammatory and infectious diseases, among others. Some examples of our current projects include treatment for pulmonary hypertension, myeloproliferative diseases and trained immunity for prevention of infections. Regarding diagnosis, we are currently working on biomarkers for myocarditis, subclinical atherosclerosis and calcific aortic valve disease.
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