3.2 million euros to identify new genetic variants responsible for hereditary cancers

A Spanish consortium part of the initiative for personalized medicine of the Carlos III Health Institute (ISCiii) will analyze thousands of mutations and try to discover their relationship with cancer.

The project, promoted by IDIBELL and CNIO, together with seven other research institutes, will combine artificial intelligence with cutting-edge molecular biology techniques to provide predictive medicine tools to the National Health Service.


The Bellvitge Biomedical Research Institute (IDIBELL) and the National Cancer Research Center (CNIO) have joined forces in the project IMPaCT_VUSCan, whose purpose is to identify the genetic variants that confer a risk of developing cancer. With funding of 3.2 million euros, this ambitious project is part of the initiative for personalized medicine of the Carlos III Health Institute and has the participation of seven other Spanish research institutes.

IMPaCT_VUSCan began in January 2023 and will run until December 2025 and seeks to expand knowledge about the genetic characteristics that influence predisposition to cancer, especially in families with a higher incidence of the disease. With a multidisciplinary approach, the project will carefully examine the genetic information, gene expression patterns and DNA modifications (epigenetics) of 300 families in Spain selected for having a high-risk family or personal history.


From family cancer to personalized medicine

The results obtained from this research will allow to specify the risk of developing some type of cancer in the approximately 1,000 study participants, from those 300 high-risk families. Consequently, preventive medicine measures can be taken in these people, such as facilitating access to early detection programs, closer follow-up or even considering preventive surgeries when necessary. This will benefit not only the participants studied but also their relatives and other families who carry the same variants. In addition, in the long term, this greater knowledge about the relationship between each genetic variant and cancer will bring personalized medicine closer to the entire population, allowing for better diagnoses and individualized clinical management.

Dr. Mercedes Robledo, head of the CNIO Hereditary Endocrine Cancer Group and project participant, affirms that “IMPaCT_VUSCan will make it possible to identify in the coming years which genetic variants, among the thousands carried by an individual, are related to development of cancer, and that will allow us to anticipate the development of the disease and act accordingly.”

Currently, information is already available on some of these variants, thanks to which the Spanish National Health System has the capacity to detect and monitor those who carry them. “Family cancer units have already managed to halve the incidence of cancer in patients who are followed in these programs, and their life expectancy has increased up to ten years,” says Dr. Conxi Lázaro, principal investigator of the project and head of the Hereditary Cancer Group of IDIBELL and coordinator of the Molecular Diagnostic Unit of the Catalan Institute of Oncology. And she continues: “But many variants that influence the risk of developing cancer remain to be identified.”


Many genetic variants, but only some are relevant

We are all carriers of thousands of genetic variants, most of which have no clinical relevance. One of the keys to this project is to identify, among all these variants, which ones are responsible for a predisposition to cancer. To do this, bioinformatics and artificial intelligence algorithms will be used to identify those that are most likely to have a significant physiological impact. “We will carry out tests with cell, animal and organoid models, among other tests, of those variants previously identified as potential culprits,” says Dr. Lázaro.

As variants of clinical interest are found, they will be included in the databases of the National Health System so that the entire population can benefit. On the other hand, the project will allow the creation of a map of resources, a network of contacts and a circuit in order to be able to analyze any variant of unknown function in the future. According to Dr. Robledo: “In order to carry out such an ambitious project, the collaboration of many groups, experts in different disciplines, in a consortium like the one we have formed is essential.”

In addition to CNIO and IDIBELL, IMPaCT_VUSCan has the participation of seven research centers throughout Spain, such as the Instituto de Investigación Sanitaria Sant Pau (IIB Sant Pau), el Instituto de Investigación Sanitaria de Navarra (IdiSNA), el Instituto de Investigación Sanitaria Hospital Clínico San Carlos (IdISSC), la Fundación Pública Galega de Medicina Xenómica (FPGMX), la Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (Fisabio), la Fundación Instituto Investigación Sanitaria Islas Baleares (IDISBA) y el Instituto de Investigación Sanitaria La Paz (IdiPaz).


Credit: Underbau/CNIO


The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center created in 2004. It is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L’Hospitalet de Llobregat.

IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).

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