CNIO Digital Genomics Group, with Irene Sánchez, José Córdoba, Marcos Díaz-Gay and María del Pilar Gallego. / MadMoviex. CNIO. CNIO
A BBVA Foundation Leonardo Grant will enable Marcos Díaz-Gay and his team to analyze the complete genomes of 3,300 tumors from patients in 18 countries. The findings could help uncover the causes of colorectal cancer in younger adults.
Research into “mutational signatures” in tumors has already helped reveal the role of urban air pollution in lung cancer among non-smokers. It has also linked the rise in colorectal cancer in young adults to bacterial infection.
The BBVA Foundation Leonardo Grants support “projects led by professionals at a pivotal stage in their careers.”
Colorectal cancer is becoming increasingly common among adults under the age of 50. The reasons behind this trend remain unclear, as does the way these tumors manage to evade the body’s immune defenses. Marcos Díaz-Gay, head of the Digital Genomics Group at the Spanish National Cancer Research Centre (CNIO), has received a BBVA Foundation Leonardo Grant to investigate these questions.
Díaz-Gay will analyze the complete genomes of 3,300 tumors from patients across 18 countries, searching for the genetic alterations that enable cancer cells to escape immune surveillance. He will also investigate how and when these alterations arise by comparing patients of different ages and from different geographical regions.
Central to the project will be Díaz-Gay’s expertise in the analysis of mutational signatures — distinctive patterns of mutations left in the genome as a result of the biological processes and environmental exposures a person experiences throughout life.
By studying these signatures, the CNIO researcher aims to identify the mutational processes that allow colorectal tumors arising in adults under 50 to evade the body’s natural defenses. These cancers are considered early-onset because most cancer cases occur later in life.
Why does lung cancer develop in non-smokers?
At the CNIO, Díaz-Gay develops computational methods based on artificial intelligence (AI) to identify mutational signatures. His research has already helped uncover the contribution of urban air pollution to lung cancer in people who have never smoked, and has provided evidence that a bacterial infection could be linked to the increase in colorectal cancer cases among younger adults. His work has been published in leading scientific journals including Nature, Cell Genomics and Nature Genetics.
Ultimately, the study of mutational signatures can help researchers develop better biomarkers as well as more personalized strategies for cancer prevention and treatment.
Marcos Díaz-Gay joined the CNIO from the University of California San Diego (United States), where he worked in the group of Ludmil B. Alexandrov, a world-leading pioneer in the study of mutational signatures. His return to Spain was made possible through the Building the AI Generation program, part of the Generación D initiative promoted by Red.es, an organization affiliated with Spain’s Ministry for Digital Transformation and the Civil Service through the Secretariat of State for Digitalization and Artificial Intelligence.
The newly funded project, which has received €50,000, is titled Tracing the Global Mutational Determinants of Immune Evasion During the Evolution of Early-Onset Colorectal Cancer.
The BBVA Foundation Leonardo Grants support “individual projects led by professionals at a decisive stage in their careers: researchers and creators aged between 30 and 45, at an intermediate point in their professional trajectory and with significant potential for further growth,” the BBVA Foundation explains.