i3S Joins European Project for Early Cancer Detection in Lynch Syndrome Patients

The European project "PREDI-LYNCH – Validation of non-invasive liquid biopsy tests for cancer PREDIction in LYNCH Syndrome," in which i3S is a partner, recently received 13.6 million euros in funding from the European Commission's Horizon Europe Programme, under the Cancer Mission. It is one of two projects with Portuguese involvement supported by this initiative. The goal, over the next six years, is to develop non-invasive, precise, acceptable, and cost-effective methods for the early detection of cancers in Lynch syndrome patients. Over 380,000 euros will be allocated to the i3S.

Coordinated by the Cancer Research Institute at Oslo University Hospital in Norway, the project involves 28 partners from 16 countries and is set to have its kick-off meeting in May of 2025. It consists of an "innovative European observational clinical trial that aims to transform pre-symptomatic diagnosis and early cancer detection in individuals with Lynch syndrome." At i3S, the project will be coordinated by Carla Oliveira, leader of the "Expression Regulation in Cancer" group, with researchers Liliana Sousa and Sara Pereira on her team.

Lynch syndrome is the most common hereditary cancer predisposition syndrome, caused by germline mutations in DNA repair proteins. One in every 279 newborns, explains Carla Oliveira, "carries a mutation in the genes associated with Lynch syndrome, predisposing them to develop colorectal, gynaecological, urothelial tract, and other cancers throughout their lives." This syndrome was long under-recognised, and there are enormous disparities in early diagnosis and clinical care provided to families with Lynch syndrome across various countries. Consequently, many patients develop advanced and untreatable cancers.

The PREDI-LYNCH project, the i3S researcher states, "proposes an ambitious, pan-European multiomics strategy to develop non-invasive, precise, acceptable, and cost-effective methods for detecting pre-cancerous and early-stage tumours in Lynch syndrome patients." By utilising cutting-edge liquid biopsy technologies, powered by artificial intelligence, the consortium—comprising renowned researchers, healthcare professionals, biotechnology companies, and patient associations, including the Portuguese organisations EVITA and Europacolon—will evaluate the capacity of these tools for the early diagnosis of the three most common cancers related to Lynch syndrome, ensuring that the results are applicable across diverse healthcare systems. Further information can be found here.

"As the largest Portuguese institute for health and life sciences, i3S plays a central role in this international effort," Carla Oliveira asserts. "Our team leads a critical task of the project, focused on identifying the key factors that influence the implementation of non-invasive diagnostic methods compared to traditional diagnoses for cancer prevention. Examples of these factors include the safety and efficacy of non-invasive diagnostic methods, and their acceptance by hospitals, healthcare professionals, and patients."

In addition to creating discussion forums among stakeholders involved in the care of Lynch syndrome patients and hosting important events for industrial exploration, i3S will "conduct international surveys and discussion groups with Lynch syndrome patients, healthcare professionals, and health managers from 29 clinical centres in 12 European countries, to identify the main barriers and facilitators to the adoption of non-invasive diagnostic methods for this disease."

Following the coordination of the European "PREVENTABLE" project, Carla Oliveira believes that the invitation to participate in the PREDI-LYNCH project "reflects increased visibility and international recognition of the cancer research applied by my team." She adds that it is "a unique opportunity to expand our collaboration network and our expertise with the aim of improving the care provided to patients suffering from hereditary cancer syndromes."