KPS-Register

Cancer predisposition

retrospective and prospective registry

Over 50 hereditary diseases are known to be associated with an increased risk of cancer. For many of these diseases, little is known about the specific cancer risk. For some diseases, it seems to make sense to carry out early detection tests due to the high cancer risk. However, little is known about the benefits of these examinations. In addition, the hereditary basis of cancer development and the changes in the tumor cells of those affected have not yet been sufficiently researched.

It can be assumed that a significant proportion of all patients with cancer develop the disease due to a genetic predisposition. There are various unanswered questions for patients with cancer predisposition syndromes:

• What is the benefit of the early detection recommended by experts?
• Are there genotype-phenotype correlations?
• How high are the cancer risks in different age groups?
• What is the prognosis of cancer in patients with a genetic predisposition to cancer?
• What particular side effects of therapy occur?
• How can the treatment of people with a cancer predisposition be improved?
• What are the biological processes that lead to the development of cancers?

This is a purely observational study. The following information will be collected in the registry to learn more about people with this group of diseases:

• medical information
• Radiology images
• Genetic findings
• Blood samples and, if necessary, bone marrow and tissue samples from people with a hereditary predisposition to cancer.

As this is a long-term observation that also monitors the course of a disease, the duration of the study is unlimited. The results of any necessary follow-up examinations are also forwarded to the registry.

The accompanying projects are still being carried out as part of the registry:

- Fanconi anemia registry: "http://www.krebs-praedisposition.de/kps-forschung/fanconi-anaemie-register/"
- Liquid Biopsy: http://www.krebs-praedisposition.de/kps-forschung/liquid-biopsy/
- ADDRess: http://www.krebs-praedisposition.de/kps-forschung/address/

• Adult participants: Written consent for participation in the register
• Children and adolescents: Written consent of the legal guardian and, if possible, also of the participant
• Once included participants turn 18 years of age, they must be contacted and confirm their consent to continue participating in the registry in writing
• Confirmed diagnosis of Li-Fraumenii syndrome or another cancer predisposition syndrome
• Suspected diagnosis of Li-Fraumenii syndrome or other cancer predisposition syndrome (without age restriction)