Current estimates indicate that only 20–30% of individuals with Rare Tumour Risk Syndromes (RTRS) have been diagnosed. As a result, many potential carriers and their families remain untested until they develop highly aggressive cancers, frequently leading to premature death. Given the rarity of these RTRS, along with the specific biological and clinical management challenges they present, increased visibility and awareness among all relevant stakeholders are paramount.
For this objective, and within the scope of the EU project PREVENTABLE (https://preventable.eu/), we have created the first-ever library on RTRS. This free online educational platform, covers all topics related with eight RTRS – Birt-Hogg-Dubé Syndrome, Familial Malignant Melanoma, Gastrointestinal Stromal Tumour, Hereditary Diffuse Gastric Cancer, Hereditary Leiomyomatosis and Renal Cell Carcinomas, Li-Fraumeni Syndrome, Peutz-Jeghers Syndrome and PTEN Hamartoma Tumour Syndrome – and their associated diseases. This covers information on basic biology, clinical criteria and guidelines, prevention strategies, surveillance options, treatments and outcomes, and family planning options. In addition, it allows searching for RTRS support across European ERN GENTURIS Healthcare providers and patient associations. We designed a segmented outreach program that aims to: 1) help at-risk individuals to learn about their RTRS and make better informed decisions; 2) raise awareness and knowledge on the medical community of general practitioners or family physicians, and; 3) inform health decision-makers for better management policies. This program involved the creation of a diverse set of contents on RTRS, tailored for different target groups, ranging from infographic videos, scientific documentaries, videocasts with experts, interactive contents and search tools, up-to-date scientific literature, all compiled in a website designed for easy and free access.
This novel Learning Hub on RTRS was created involving patients, family members, world-leading clinical and research specialists, through visits to six different European countries. We used the most up-to-date scientific literature and state-of-the art production techniques to generate the first-ever comprehensive library on a (still) neglected set of syndromes. This platform will be publicly available from May 2026, and will be an inestimable guiding tool for the public, healthcare professionals, health managers, and policymakers.