Science and Innovation funds the first Spanish study to predict personalised breast cancer risk

The Ministry of Science, Innovation and Universities (MICIU) has funded the MamoRisk project, the first Spanish study to predict personalised breast cancer risk, which will collect data from 10,000 women (6,000 healthy and 4,000 diagnosed). The aim is to detect cancer at an earlier stage or to implement targeted preventive measures.

MamoRisk is backed by €1.2 million in public funding from the European NextGenerationEU programme, awarded through the Precision Personalised Medicine call for proposals by the Carlos III Health Institute (ISCIII), a public research agency under MICIU.

The project is led by the Santiago de Compostela Institute for Health Research (IDIS), the Southern Galicia Institute for Health Research (IISGS) and the Spanish National Cancer Research Centre (CNIO).

The principal investigator is Dr Manuela Gago of IDIS, who is responsible for the scientific design of the study and for coordinating the selection and recruitment of participants, as well as for the collection of samples and clinical and epidemiological data. At the CNIO, Dr Anna González-Neira and Guillermo Pita are leading the genetic study of the participants using high-throughput sequencing techniques, as well as assessing their individual genetic risk of developing breast cancer. Meanwhile, Dr José Esteban Castelao, of the IISGS, is coordinating research into artificial intelligence applied to the thousands of mammograms collected as part of the project. Finally, all teams will integrate clinical, epidemiological, genetic and mammographic data to create the study's final map, including a cost-effectiveness analysis.

With the participation of 14 regional governments

The project is set to begin in Galicia, where 400 women have started to receive invitations to take part in the study. A further 13 regional governments will then be added: Madrid, Cantabria, Castile-La Mancha, Murcia, Extremadura, Asturias, Castile and León, Andalusia, Aragon, Catalonia, La Rioja, the Valencian Community and the Canary Islands.

The MICIU's involvement goes beyond simply funding the project, as the three entities conducting the study are linked to the Carlos III Health Institute (ISCIII): the CNIO is a foundation affiliated with the Institute, while IDIS and IISGS are two of the 36 Health Research Institutes (IIS) accredited by the ISCIII across Spain.

The study will validate a statistical model that predicts each woman's risk of developing breast cancer based on non-genetic, genetic and mammographic risk factors, by combining radiological interpretation with artificial intelligence. Using their clinical and epidemiological data alongside genetic information obtained from a saliva sample, the model will be applied to the participants, and its predictions will be compared against actual outcomes.

As far as genetic information is concerned, hundreds of genetic variants associated with increased risk have been identified. Variants located in the BRCA1 and BRCA2 genes confer high risk, while other variants with a lower impact are present in a larger segment of the population.

A lifestyle characterised by low alcohol consumption, physical activity and the avoidance of postmenopausal obesity is also important; indeed, such a lifestyle has been linked to a 20% reduction in breast cancer risk.

If the risk prediction model proves effective and is adopted in screening programmes, women at higher risk of developing cancer will be candidates for much more intensive monitoring.

Non official translation