On the occasion of World Cancer Research Day, celebrated on September 24th, the Bellvitge Health Campus champions the role of genetic research as an essential driver for the diagnosis, prevention, and precision medicine of rare hereditary cancer predisposition syndromes. These syndromes are passed down through families generation after generation and many are so infrequent they are considered rare, even ultra-rare, diseases. Their low frequency and familial component make them particularly difficult to diagnose and investigate. It is precisely in such cases that research plays a crucial role.
Thanks to the genetic research at the Bellvitge Health Campus, 621 individuals with over 25 rare syndromes of hereditary cancer predisposition have been identified, and currently 259 carriers are followed in personalized prevention and surveillance programs. Identifying these syndromes is not easy, and families often live for years with the fear and uncertainty of not knowing what causes multiple cancer cases to recur in their family tree. In these cases, research not only represents a diagnosis: it is an answer and an opportunity to prevent, anticipate, and protect future generations.
At the Bellvitge Health Campus, constant communication between researchers, geneticists, oncologists, bioinformaticians, and clinical professionals facilitates the discussion of particularly challenging cases, the application of new genomic sequencing technologies, and the validation of results directly linked to medical decision-making. Thus, research is an integral part of the patient care circuit.
“"The best way to provide answers to patients is to have all the necessary pieces working closely together, in an integrated manner, to address hereditary and rare cancers. And here we are fortunate to have the professionals to do it."
The case of Maira, a patient with Familial Adenomatous Polyposis (FAP), exemplifies the benefits of this integrated model. Thanks to advanced bioinformatics tools and validation experiments, Dr. Conxi Lázaro's team successfully identified the genetic cause of the disease within the IMPaCT-VUSCan project. "Finding an answer is like turning on a light, and now everything is much clearer," explains Maira, highlighting the transgenerational impact: "My children will be able to have some control when they decide to become parents."
“"One of the main benefits of identifying the responsible genetic variant is being able to determine which family members have inherited the genetic variant and, therefore, the associated risk, and require specific surveillance, and which ones have not. In carriers, endoscopic follow-up and surgical decisions can be individualized according to the characteristics of each patient."
Research at IDIBELL, through projects like IMPaCT-VUSCan and participation in the European project Solve-RD, has enabled the diagnosis of previously undetectable hereditary cancer cases. The use of tools like GRIDSS and improved algorithms have increased the diagnostic capacity for hereditary causes to nearly 18%, a relative increase of approximately 50%.
The Bellvitge Health Campus is committed to research in rare diseases through the REMMA Bellvitge program and its Comprehensive Cancer Center, integrating research, care, education, and innovation to improve the diagnosis, prevention, and treatment of rare cancer-related syndromes.
The Bellvitge Biomedical Research Institute (IDIBELL) is a center specializing in cancer, neuroscience, translational medicine, and regenerative medicine, with over 1,500 professionals. The Bellvitge University Hospital is a reference center for maximum complexity serving 2 million people, excelling in oncological surgery and personalized medicine. The Catalan Institute of Oncology (ICO) is a public center of excellence in cancer that integrates care, research, training, and prevention.
