结直肠癌（CRC）在诊断方面居第三位，死亡率方面居第二位。最近的研究表明，可以利用各种蛋白质、细胞外囊泡（即外泌体）、特定基因变异、基因转录本、细胞游离DNA（cfDNA）、循环肿瘤DNA（ctDNA）、微小RNA（miRNA）、长链非编码RNA（lncRNA）和改变的表观遗传模式来检测和评估CRC的预后。在过去十年中，已经开发出了大量的传统方法（如聚合酶链反应[PCR]、直接测序、酶联免疫吸附试验[ELISA]、微阵列、原位杂交）以及先进的分析方法（如微流控、电化学生物传感器、表面增强拉曼光谱[SERS]）来使用光学和非光学工具分析遗传和表观遗传标志物。尽管有这些方法，但尚未实施任何能够以廉价、简单和高效的方式对CRC进行高特异性和高敏感性分析的黄金标准检测方法。此外，到目前为止，还没有对这些方法的优势和局限性进行批判性综述的研究。本文讨论了CRC中最常用的遗传和表观遗传标志物及其检测方法的概述。此外，还介绍了现有技术的主要生物学、技术和临床挑战以及优势/局限性的总结。版权所有© 2023科技专业编写。转载须获得Elsevier B.V.的许可。保留所有权利。

Colorectal carcinoma (CRC) is the third most common cancer in terms of diagnosis and the second in terms of mortality. Recent studies have shown that various proteins, extracellular vesicles (i.e., exosomes), specific genetic variants, gene transcripts, cell-free DNA (cfDNA), circulating tumor DNA (ctDNA), microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and altered epigenetic patterns, can be used to detect, and assess the prognosis of CRC. Over the last decade, a plethora of conventional methodologies (e.g., polymerase chain reaction [PCR], direct sequencing, enzyme-linked immunosorbent assay [ELISA], microarray, in situ hybridization) as well as advanced analytical methodologies (e.g., microfluidics, electrochemical biosensors, surface-enhanced Raman spectroscopy [SERS]) have been developed for analyzing genetic and epigenetic biomarkers using both optical and non-optical tools. Despite these methodologies, no gold standard detection method has yet been implemented that can analyze CRC with high specificity and sensitivity in an inexpensive, simple, and time-efficient manner. Moreover, until now, no study has critically reviewed the advantages and limitations of these methodologies. Here, an overview of the most used genetic and epigenetic biomarkers for CRC and their detection methods are discussed. Furthermore, a summary of the major biological, technical, and clinical challenges and advantages/limitations of existing techniques is also presented.Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.