Targeted therapy in patients with genetic tumor syndromes.

IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-11-08 eCollection Date: 2025-11-01 DOI:10.1515/medgen-2025-2045
Arne Jahn, Christoph Heining, Stefan Fröhling, Hanno Glimm, Evelin Schröck
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引用次数: 0

Abstract

Significant progress in comprehensive molecular diagnostics and targeted therapies for advanced malignancies has, in part, led to substantial improvements in patient outcomes. Nevertheless, comprehensive genomic profiling necessitates interdisciplinary discussion of potential clinical recommendations within interdisciplinary molecular tumor boards. (Likely) pathogenic germline variants (PGVs) typically warrant genetic counseling for patients and, where appropriate, their relatives. Concurrently, the rapidly expanding availability of targeted therapies introduces new therapeutic implications based on germline alterations that must be integrated into clinical decision-making. Moreover, the identification of PGVs may not only inform therapy in patients with manifest malignancy but also offer opportunities for targeted chemoprevention.

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遗传性肿瘤综合征患者的靶向治疗。
在晚期恶性肿瘤的综合分子诊断和靶向治疗方面取得的重大进展,在一定程度上导致了患者预后的实质性改善。然而,全面的基因组分析需要跨学科分子肿瘤委员会对潜在的临床建议进行跨学科讨论。(可能的)致病性种系变异(PGVs)通常需要对患者进行遗传咨询,并在适当的情况下,对其亲属进行遗传咨询。同时,快速扩展的靶向治疗引入了基于生殖细胞改变的新的治疗意义,必须整合到临床决策中。此外,pgv的识别不仅可以为明显恶性肿瘤患者的治疗提供信息,还可以为靶向化学预防提供机会。
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来源期刊
Medizinische Genetik
Medizinische Genetik GENETICS & HEREDITY-
自引率
9.10%
发文量
48
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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