游离DNA生物学知识的扩展：拓宽临床应用的潜力。

Expanded knowledge of cell-free DNA biology: potential to broaden the clinical utility.

作者信息

Che Huiwen, Stanley Kate, Jatsenko Tatjana, Thienpont Bernard, Vermeesch Joris Robert

机构信息

Department of Human Genetics, Laboratory for Cytogenetics and Genome Research, KU Leuven, Leuven 3000, Belgium.

Department of Human Genetics, Laboratory for Functional Epigenetics, KU Leuven, Leuven 3000, Belgium.

出版信息

Extracell Vesicles Circ Nucl Acids. 2022 Aug 10;3(3):216-234. doi: 10.20517/evcna.2022.21. eCollection 2022.

DOI:10.20517/evcna.2022.21

PMID:39697489

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11648412/

Abstract

Noninvasive sampling of an individual's body fluids is an easy means to capture circulating cell-free DNA (cfDNA). These small fragments of DNA carry information on the contributing cell's genome, epigenome, and nuclease content. Analysis of cfDNA for the assessment of genetic risk has already revolutionized clinical practice, and a compendium of increasingly higher-resolution approaches based on epigenetic and fragmentomic cfDNA signatures continues to expand. Profiling cfDNA has unlocked a wealth of molecular information that can be translated to the clinic. This review covers the biological characteristics of cfDNA, recent advances in liquid biopsy and the clinical utility of cfDNA.

摘要

对个体体液进行无创采样是获取循环游离DNA（cfDNA）的简便方法。这些小DNA片段携带着有关来源细胞基因组、表观基因组和核酸酶含量的信息。分析cfDNA以评估遗传风险已经彻底改变了临床实践，并且基于表观遗传和片段组cfDNA特征的一系列分辨率越来越高的方法仍在不断扩展。对cfDNA进行分析已经解锁了大量可转化应用于临床的分子信息。本综述涵盖了cfDNA的生物学特性、液体活检的最新进展以及cfDNA的临床应用价值。