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

Journal of health monitoring Pub Date : 2023-12-13 eCollection Date: 2023-12-01 DOI:10.25646/11828

Christina M Dutzmann, Nathalie E Palmaers, Lucas J Müntnich, Farina J Strüwe, Judith Penkert, Birte Sänger, Beatrice Hoffmann, Anja Karow, Christina Reimer, Tanja Gerasimov, Marena R Niewisch, Christian P Kratz

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Abstract

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.

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德国罕见疾病研究 - 癌症易感综合征登记处。

背景：癌症易感综合征（CPS）是一种罕见疾病，由于基因改变而导致患癌风险增加。在所有儿童癌症病例中，至少有 8% 可归因于 CPS [1，2]。CPS 登记于 2017 年启动，旨在了解更多有关 CPS 的信息，并改善对这些疾病患者的护理：方法：这是一个国际联网的登记处，与相关的配套研究一起调查癌症风险和谱系、癌症预防的可能性、早期检测和治疗：结果：对于其中几种综合征，人们对癌症风险、癌症类型以及改变癌症风险的因素有了新的认识。此外，还启动了实验、肿瘤心理、临床前和临床研究：CPS登记处是一个范例，说明了如何通过系统的数据收集和研究，在短时间内取得进展，使罕见病患者受益。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of health monitoring

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