A registry study on genetically determined cancer risk (cancer predisposition syndromes, CPS) to improve early detection and treatment (CPS-R01 Study)

Cancer predisposition syndromes (CPS) are genetic disorders that increase the risk of certain types of cancer. People with CPS have altered DNA due to hereditary disorders, which makes them more susceptible to tumors. Among the best-known examples are BRCA1 or BRCA2 syndrome, which increases the risk of breast and ovarian cancer, and Lynch syndrome, which is associated with a higher risk of colorectal cancer. Li-Fraumeni syndrome is also classified as a KDS and is associated with an increased risk of various types of cancer. Approximately 10% of all children with cancer are affected by a KDS. CS can be diagnosed through genetic testing, which is often recommended based on family medical history or when cancer occurs at a young age. Early testing and regular screening help identify and reduce the risk of developing the disease at an early stage.

The goal of this registry study is to collect data from patients with cancer predisposition syndromes (CPS) to deepen our understanding of these conditions. This is intended to improve early detection methods and treatment options. To this end, the study will collect data, blood and tumor samples, and radiological imaging data from patients. This information will be collected at the start of the study and once a year; only samples obtained as part of regular treatment or diagnostic procedures will be collected. The study is non-interventional, which means that no medications or new forms of therapy are being tested.

Women and men of any age with a confirmed cancer predisposition syndrome or a strong suspicion of having a cancer predisposition syndrome are eligible to participate in the study.