On the occasion of World Cancer Research Day, held every year on September 24, the Bellvitge Health Campus highlights the crucial role of genetic research as a driving force for diagnosis, prevention, and precision medicine in rare hereditary cancer predisposition syndromes. These syndromes are transmitted within families from generation to generation and many are so rare that they are considered rare diseases, even ultra-minority diseases. These syndromes are passed down through families across generations, and many are so uncommon that they are considered rare, or even ultra-rare, diseases. Their low prevalence and hereditary nature make them particularly challenging to diagnose and investigate. It is precisely in these cases that research becomes essential.
Although each syndrome is individually uncommon, genetic research conducted at the Bellvitge Health Campus has identified 621 individuals with more than 25 rare hereditary cancer predisposition syndromes, and 259 carriers are currently enrolled in personalized prevention and surveillance programs. Identifying these syndromes is not straightforward, and families often live for years with the fear and uncertainty of not knowing why cancer repeatedly affects multiple relatives across generations. In such situations, research represents more than a diagnosis: it provides answers and an opportunity to prevent disease, anticipate risks, and protect future generations.
Providing answers for patients
At the Bellvitge Health Campus, the different components of cancer care and research have worked in close coordination for years through an integrated model that optimizes clinical and research workflows. Continuous communication among researchers, geneticists, oncologists, bioinformaticians, and healthcare professionals facilitates discussions of particularly challenging cases, the implementation of advanced genomic sequencing technologies, and the validation of findings directly linked to medical decision-making. As a result, research is not conducted in parallel to patient care, but rather forms part of the same care pathway.
“The best way to provide answers to patients is to have all the necessary expertise to address hereditary and rare cancers working together in an integrated manner,” explains Dr. Conxi Lázaro, co-leader of the Hereditary Cancer research group at IDIBELL-ICO. “Here, we are fortunate to have the professionals needed to make that possible,” she adds.
A single genetic finding can change the future of an entire family
The benefits of this integrated model become especially clear in stories like that of Maira, a patient with familial adenomatous polyposis (FAP), a rare hereditary syndrome that predisposes individuals to colorectal cancer. For years, she, her mother, and her sister lived with a condition that caused the continuous development of colon polyps and a very high risk of colorectal cancer. Everything pointed to a genetic cause, yet the responsible variant could not be identified with certainty.
Approximately 5% to 6% of colorectal cancer cases are associated with known hereditary syndromes, while the vast majority occur sporadically. In these cases, in addition to age and other non-modifiable factors, lifestyle-related factors also play an important role.
Maira’s case became part of the IMPaCT-VUSCan project, led by IDIBELL, which studies families suspected of having hereditary cancer predisposition in whom a definitive diagnosis has not yet been reached. Thanks to advanced bioinformatics tools and validation experiments, Dr. Conxi Lázaro’s team successfully identified the genetic cause of the disease. “Finding an answer is like turning on a light, and now everything is much clearer,” explains Maira in the new episode of REMMA Bellvitge, IDIBELL’s research program on rare adult diseases. “My children will be able to have some control when the time comes for them to become parents,” she adds, referring to the genetic counselling they will receive and their ability, if they choose, to explore reproductive options in the future.
“One of the main benefits of identifying the genetic variant responsible for a hereditary syndrome is determining which family members inherited the variant, and therefore the associated risk, and which did not,” explains Dr. Gemma Ibáñez Sanz, gastroenterologist at Bellvitge University Hospital and researcher in IDIBELL’s Colorectal Cancer group. “For carriers, endoscopic surveillance and surgical decisions can be tailored according to each patient’s characteristics, the number and features of their polyps, and, in certain cases, genetic information. This allows us to adapt prevention and follow-up strategies to everyone’s real situation.”
The source of the answers: research
Maira’s story illustrates the tangible impact of scientific research that continues to generate new tools and knowledge to improve the diagnosis, monitoring, and treatment of rare cancer-related syndromes. In recent years, researchers from IDIBELL, particularly those in the Hereditary Cancer research group at IDIBELL-ICO, have promoted and led several projects aimed at achieving these goals.
Among these initiatives is the IMPaCT-VUSCan project, as well as participation in the European Solve-RD project, through which the team managed to diagnose cases of hereditary cancer that had remained unresolved using conventional techniques. At the same time, the development and application of new bioinformatics tools, such as GRIDSS, have enabled the detection of complex structural DNA alterations that would previously have gone unnoticed in routine testing. Researchers have also worked to improve the algorithms used to identify genetic variants associated with hereditary cancer risk. These advances allow deeper understanding of the genome, better interpretation of variants of uncertain significance, and progress toward more precise diagnoses and increasingly personalized oncology care that directly benefits patients.
The impact of this research is measurable. “While conventional genetic testing identifies the hereditary cause in approximately 12% of cases, the incorporation of new research-driven strategies increases diagnostic capacity to nearly 18%. These six additional percentage points represent a relative increase of almost 50%,” explains Dr. Conxi Lázaro.
A long-term commitment to patients
The journey does not end there. Despite significant advances, many hereditary cancer predisposition syndromes continue to raise unanswered questions. Understanding the biological mechanisms behind these conditions, identifying new genetic causes, and developing more accurate diagnostic and therapeutic tools remain major challenges in cancer research.
In this context, it is clearer than ever that rare hereditary cancer predisposition syndromes require dedicated research efforts. Behind every rare syndrome are families who deserve the best possible opportunities for diagnosis, prevention, and treatment.
This commitment is reflected in two of the major strategic initiatives of IDIBELL and the Bellvitge Health Campus. The first is REMMA Bellvitge, a programme dedicated to research and care for rare diseases in adults. The second is the Bellvitge Health Campus Comprehensive Cancer Center, whose established model integrates research, healthcare, education, and innovation to accelerate the translation of scientific knowledge into patient benefit.
At the Bellvitge Health Campus, genetic research on rare hereditary cancer predisposition syndromes is not only aimed at better understanding disease. It seeks to provide answers where there were once only unanswered questions. Because in this field, a scientific discovery is more than just knowledge: it is an opportunity to change the future of an entire family.
About IDIBELL
The Bellvitge Biomedical Research Institute (IDIBELL) is a research centre created in 2004 specialising in cancer, neurosciences, translational medicine and regenerative medicine. It has a team of more than 1,500 professionals who, from 73 research groups, publish more than 1,400 scientific articles a year. IDIBELL has the support of 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 HUBc of the University of Barcelona and 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 Excellence in HR 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).
About Bellvitge University Hospital
Bellvitge Hospital is a public, university, research and innovative hospital. With more than 5,200 expert and committed professionals, it is the local hospital for the citizens of L’Hospitalet and El Prat de Llobregat and a reference centre of maximum complexity for 2 million people, throughout the southern axis of Catalonia. It is the Catalan health centre that performs the most complex surgery, especially oncological, and is part of the Bellvitge Health Campus, recognised by the Organisation of European Cancer Institutes (OECI) as a Comprehensive Cancer Centre for its excellence in cancer care, research and teaching. It integrates the focus on improving the patient experience and the creation of networks with primary care and nearby hospitals in its projects. Oriented towards personalised medicine, it has the best genetic diagnosis and imaging tools for cancer and rare diseases, complemented by the High Precision Diagnostic Centre, which has the first PET/Magnetic Resonance imaging in the Spanish healthcare network. It registers about 26,000 major surgical operations annually; 39,000 discharges; 400,000 outpatient visits and about 100,000 diagnostic tests.
About the Catalan Institute of Oncology
The Catalan Institute of Oncology is a public centre of excellence in oncology. It treats the disease in a comprehensive way, as it brings together, within the same organisation, care, research, specialised training and prevention. It is a public company created in 1995 by the Department of Health that began operating in the facilities of the Durán i Reynals Hospital in L’Hospitalet de Llobregat. In 2002, the ICO Girona was inaugurated, at the Doctor Josep Trueta Hospital, and the following year the ICO Badalona, at the Germans Trias i Pujol University Hospital. In 2014, the ICO Camp de Tarragona and Terres de l’Ebre was inaugurated at the Joan XXIII Hospital in Tarragona and at the Virgen de la Cinta in Tortosa. In addition, it collaborates with twenty other hospitals. The aim of this network is to bring the specialist to where the patient is and guarantee equity in health