Research on Rare Diseases in Germany - The cancer predisposition syndrome registry.

Autor:	Dutzmann CM; Department of Pediatric Hematology and Oncology, Hannover Medical School., Palmaers NE; Department of Pediatric Hematology and Oncology, Hannover Medical School., Müntnich LJ; Department of Pediatric Hematology and Oncology, Hannover Medical School., Strüwe FJ; Department of Pediatric Hematology and Oncology, Hannover Medical School., Penkert J; Department of Pediatric Hematology and Oncology, Hannover Medical School., Sänger B; Department of Pediatric Hematology and Oncology, Hannover Medical School., Hoffmann B; Department of Pediatric Hematology and Oncology, Hannover Medical School., Karow A; Department of Pediatric Hematology and Oncology, Hannover Medical School., Reimer C; Department of Pediatric Hematology and Oncology, Hannover Medical School., Gerasimov T; Department of Pediatric Hematology and Oncology, Hannover Medical School., Niewisch MR; Department of Pediatric Hematology and Oncology, Hannover Medical School., Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School.
Jazyk:	angličtina
Zdroj:	Journal of health monitoring [J Health Monit] 2023 Dec 13; Vol. 8 (4), pp. 17-23. Date of Electronic Publication: 2023 Dec 13 (Print Publication: 2023).
DOI:	10.25646/11828
Abstrakt:	Background: Cancer predisposition syndromes (CPS) are rare diseases that are associated with an increased risk of cancer due to genetic alterations. At least 8 % of all cases of childhood cancer are attributable to CPS [1, 2]. The CPS registry was launched in 2017 to learn more about CPS and to improve the care to those afflicted by these diseases. Methods: This is an internationally networked registry with associated accompanying studies that investigate cancer risks and spectra, the possibilities of cancer prevention, early detection and therapy. Results: For several of these syndromes, new insights into the cancer risks and cancer types as well as factors modifying cancer risk have been gained. In addition, experimental, psycho-oncological, preclinical and clinical studies were initiated. Conclusions: The CPS registry is an example of how progress can be made within a short period of time to the benefit of individuals with rare diseases through systematic data collection and research. Competing Interests: Conflicts of interest The authors declared no conflicts of interest. (© Robert Koch Institute. All rights reserved unless explicitly granted.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu