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The Hereditary Cancer group at ICO-IDIBELL continues its work on improving the diagnostic strategy for unresolved cases of hereditary cancer, in this instance by applying its own algorithm to identify complex mutations that are difficult to detect. The approach of this study is based on the optimisation of current bioinformatics tools (GRIDSS) and has been published in the European Journal of Human Genetics. The study, led by Dr Conxi Lázaro, involved the participation of UBOP (David Cordero, Ania Alay, José Marcos Moreno and María Ajenjo).

On April 29 and 30, the European consortium TANGERINE, led by Dr. Víctor Moreno, held its final follow-up meeting at the Henri Mondor Hospital in Créteil, France.

This initiative, launched in 2023, brings together teams from five countries (Spain, France, Germany, Romania, and Israel) with the goal of developing an artificial intelligence tool capable of predicting the response and toxicity to immunotherapy in patients with different types of cancer.

This study was funded by the Carlos III Health Institute (ISCIII) under the "International Collaboration Projects" program, which finances actions of the Recovery and Resilience Facility (RRF), through project AC22/00021, by the Spanish Scientific Foundation, and by the European Union – NextGenerationEU.

Link to project

A new study led by researchers from ODAP Biomarkers and Susceptibility Unit, and published in Environmental International, has shed light on the specific interaction between genetics and the environment in the risk of developing colorectal cancer.

The development of colorectal cancer does not depend on a single factor but is the result of a complex interaction between genetics, the environment and individual lifestyle. The research, led by Ferran Moratalla as lead author, has focused on the effect of prolonged exposure to trihalomethanes —a common by-product of the water purification process—on the risk of developing colorectal cancer. According to the results, genetic variants have been identified that could modulate the body’s response to trihalomethanes and influence the risk of developing this cancer. Specifically, a variant related to the LRRC8B gene could play a significant role in the biological response to trihalomethanes, increasing susceptibility to colorectal cancer and modulating the risk of developing tumours.

Further research is needed to confirm these findings and to explore the biological mechanisms underlying the link between trihalomethanes exposure, genetics and the risk of developing colorectal cancer.

Last February, the Catalan Institute of Oncology held the second MTB Conference at the Bellvitge Campus, a multidisciplinary event dedicated to analysing the development of Molecular Tumour Boards (MTBs) and their impact on precision medicine. The session brought together healthcare and research professionals from the campus to share experiences and knowledge, focusing on the transfer from the laboratory to the patient and the analysis of real clinical cases. Among the attendees and organisers of the conference were David Cordero, coordinator and member of the UBOP.

Throughout the conference, key issues were addressed, such as the actionable nature of variants, secondary findings of germline origin and the value of collaborative work in research projects, as well as emphasising the need to optimise diagnostic pathways.

The GenRisk strategic sub-programme, part of CIBERESP’s Research Programme on Epidemiology and Control of Chronic Diseases, aims to improve the prevention of several cancers under study through personalised strategies, so that genetic and lifestyle data can help to properly define how cancer prevention should be approached for each individual.

The annual meeting held late last year in Oviedo, and led by Víctor Moreno (ICO) and Pablo Fernández (CNE, ISCIII), focused on the presentation of recent results from initiatives carried out within the subprogramme on serum metabolomic biomarkers, gene-environment interactions and genome-wide association studies (GWAS) related to different types of cancer. Analyses of regional genetic susceptibility in Spain and methodological tools for genetic annotation were also presented.