A relevant proportion of cancers in childhood, adolescence and adulthood are based on a hereditary predisposition. Nevertheless, many CPS/TDS - such as Li-Fraumeni syndrome, DICER1 syndrome or CMMRD - remain underdiagnosed, especially in adolescents and young adults.
To date, there are heterogeneous structures in identification, genetic diagnostics, interpretation of findings, tumor monitoring and in the transition from pediatric to adult medicine between the BZKF sites. At the same time, the use of modern sequencing methods is becoming increasingly important and raises legal and ethical questions (e.g. data protection, handling of incidental findings). A coordinated, patient-centered approach across all locations is still lacking.

The study group addresses these gaps in several key fields of action:

• Care map & structural comparison
  Systematic survey of current care pathways for patients with (suspected) TDS/CPS at all BZKF sites - from suspected clinical diagnosis to genetic testing and long-term surveillance.
• Harmonization of diagnostics, counselling and surveillance
  Development of uniform, evidence-based minimum standards for diagnostics, genetic counseling, communication of findings and tumor surveillance - with a special focus on rare and early-onset syndromes and AYA patients in transition.
• Interdisciplinary decision-making structures
  Establishment of a virtual, BZKF-wide CPS/TDS board in which complex cases, VUS constellations and questions on surveillance are discussed on an interdisciplinary basis (pediatrics, adult oncology, human genetics, psychosocial issues, basic research).
• Ethics, law and data infrastructure
  Development of concepts for the secure, legally compliant handling of germline data (incl. GDPR), VUS and incidental findings as well as for federated data storage and controlled data access.
• Patient centricity and psychosocial care
  Close connection to the KiTDS Care project for the systematic recording of the psychosocial needs of affected families and integration of patient representatives in decision-making processes and information materials.
• Translational research & networking
  Preparation of joint research projects, including on liquid biopsy-based early detection strategies, AI-supported variant classification and automated surveillance planning in close cooperation with the BZKF lighthouse projects Omics/Genomics, Liquid Biopsy and AI/Bioinformatics.

• Survey of the current situation
  Cross-site inventory of diagnostic, advisory and monitoring structures for TDS/CPS as well as existing interdisciplinary boards and transition structures (pediatrics-adult medicine).
• Consensus processes and standardization
  Implementation of interdisciplinary workshops with pediatricianspaediatricians, adult oncologistsoncologists, human geneticistshuman geneticists, basic scientistsscientists, ethics and legal expertslegal experts and patient representativesto develop harmonized care pathways and SOPs.
• Virtual CPS/TDS board
  Implementation and pilot phase of a BZKF-wide virtual board for complex TDS/CPS cases, including evaluation of case numbers, decision quality and feasibility in routine care.
• Concept for a joint TDS/CPS register
  Development of a technically and legally coordinated registry framework including interfaces to existing BZKF structures (e.g. relapse registry, ECTU board) as a basis for prospective long-term observations.
• First joint scientific evaluations
  Analysis of diagnostic and surveillance patterns and care needs.