Liquid biopsy-based early tumor and minimal residual disease detection: New perspectives for cancer predisposition syndromes

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Medizinische Genetik Pub Date : 2023-11-29 DOI:10.1515/medgen-2023-2049
Lena Bohaumilitzky, Johannes Gebert, M. K. Doeberitz, Matthias Kloor, A. Ahadova
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Abstract

Abstract Genetic predisposition is one of the major measurable cancer risk factors. Affected patients have an enhanced risk for cancer and require life-long surveillance. However, current screening measures are mostly invasive and only available for certain tumor types. Particularly in hereditary cancer syndromes, liquid biopsy, in addition to monitoring therapy response and assessing minimal residual disease, holds great potential for surveillance at the precancerous stage and potentially even diagnostics. Exploring these options and future clinical translation could help reduce cancer risk and mortality in high-risk individuals and enhance patients’ adherence to tailored surveillance protocols.
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基于液体活检的早期肿瘤和极小残留病检测:癌症易感综合征的新视角
摘要 遗传易感性是可测量的主要癌症风险因素之一。受影响的患者罹患癌症的风险更高,需要终身监测。然而,目前的筛查措施大多是侵入性的,而且只适用于某些肿瘤类型。特别是在遗传性癌症综合征中,除了监测治疗反应和评估最小残留病外,液体活检在癌前病变阶段的监测甚至诊断方面都具有巨大潜力。探索这些选择和未来的临床转化有助于降低高危人群的癌症风险和死亡率,并提高患者对定制监测方案的依从性。
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来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
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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