The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders

IF 0.8 4区生物学 Q4 GENETICS & HEREDITY

Medizinische Genetik Pub Date : 2023-11-29 DOI:10.1515/medgen-2023-2066

A. Hallermayr, T. Keßler, V. Steinke-Lange, Ellen Heitzer, E. Holinski-Feder, Michael Speicher

引用次数: 0

Abstract

Abstract Liquid biopsy for minimally invasive diagnosis and monitoring of cancer patients is progressing toward routine clinical practice. With the implementation of highly sensitive next-generation sequencing (NGS) based assays for the analysis of cfDNA, however, consideration of the utility of liquid biopsy for clinical genetic testing is critical. While the focus of liquid biopsy for cancer diagnosis is the detection of circulating tumor DNA (ctDNA) as a fraction of total cell-free DNA (cfDNA), cfDNA analysis reveals both somatic mosaic tumor and germline variants and clonal hematopoiesis. Here we outline advantages and limitations of mosaic and germline variant detection as well as the impact of clonal hematopoiesis on liquid biopsy in cancer diagnosis. We also evaluate the potential of cfDNA analysis for the molecular diagnosis of monogenic mosaic disorders.

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液体活检在癌症和单基因镶嵌性疾病临床基因诊断中的作用

摘要用于癌症患者微创诊断和监测的液体活检正逐步走向常规临床实践。然而，随着基于高灵敏度下一代测序（NGS）的 cfDNA 分析方法的实施，考虑液体活检在临床基因检测中的实用性至关重要。虽然用于癌症诊断的液体活检的重点是检测循环肿瘤 DNA（ctDNA）（占总无细胞 DNA（cfDNA）的一部分），但 cfDNA 分析既能揭示体细胞镶嵌肿瘤和种系变异，也能揭示克隆造血。在此，我们概述了镶嵌和种系变异检测的优势和局限性，以及克隆造血对液体活检在癌症诊断中的影响。我们还评估了 cfDNA 分析在单基因镶嵌性疾病分子诊断中的潜力。

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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来源期刊

Medizinische Genetik Medicine-Genetics (clinical)

CiteScore

1.40

自引率

9.10%

发文量

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.