Abstract IA04: New approaches to study cancer predisposition syndromes

Abstract

Abstract The diagnosis of a cancer predisposition syndrome (CPS) in a child diagnosed with cancer influences medical care; however, many open questions remain in the areas of counseling, psychosocial support, cancer prevention, surveillance, and therapy. To address such issues, a CPS-registry was launched: www.cancer-predisposition.org. The CPS-registry (1) provides detailed information for affected families and health care professionals, (2) collects biospecimens for translational research, (3) assembles both retrospective and annual prospective data on cancer diagnoses and surveillance measures in individuals with approximately 60 different CPS, (4) makes mutation data publicly available through accessible databases, (5) shares data internationally, (6) links data with trial groups and cancer registries, and (7) provides expert opinion for individual treatment decisions. Due to hidden clinical signs, CPS are often overlooked; however, various clinical tools have been developed to increase the percentage of families that are being offered counseling and testing. Moreover, CPS diagnosis is dramatically facilitated by the increasing use of agnostic next-generation sequencing in pediatric oncology, supporting the notion that 10% of children with cancer harbor mutations in cancer predisposition genes, often in the absence of clinical signs. CPS diagnosis yet remains a challenge prior to a first cancer diagnosis; however, a more systematic diagnostic approach is required to offer prevention and surveillance measures to these individuals. Strong family support organizations such as LFSA and FARF have dramatically improved collaborative research in the CPS field. In the future, clinical protocols for CPS individuals will pave the way for better prevention, surveillance, and cancer treatment strategies. Citation Format: Christian P. Kratz. New approaches to study cancer predisposition syndromes [abstract]. In: Proceedings of the AACR Special Conference on the Advances in Pediatric Cancer Research; 2019 Sep 17-20; Montreal, QC, Canada. Philadelphia (PA): AACR; Cancer Res 2020;80(14 Suppl):Abstract nr IA04.