Islam Md Sajedul, Gopalan Vinod, Lam Alfred K, Shiddiky Muhammad J A
Cancer Molecular Pathology, School of Medicine & Dentistry, Griffith University, Gold Coast Campus, Southport, QLD, 4222, Australia; Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD, 4222, Australia.
Cancer Molecular Pathology, School of Medicine & Dentistry, Griffith University, Gold Coast Campus, Southport, QLD, 4222, Australia; Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD, 4222, Australia.
Biosens Bioelectron. 2023 Nov 1;239:115611. doi: 10.1016/j.bios.2023.115611. Epub 2023 Aug 19.
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.
结直肠癌（CRC）在诊断方面是第三大常见癌症，在死亡率方面是第二大常见癌症。最近的研究表明，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、游离DNA（cfDNA）、循环肿瘤DNA（ctDNA）、微小RNA（miRNA）、长链非编码RNA（lncRNA）以及改变的表观遗传模式，可用于检测和评估结直肠癌的预后。在过去十年中，已经开发出大量传统方法（例如聚合酶链反应[PCR]、直接测序、酶联免疫吸附测定[ELISA]、微阵列、原位杂交）以及先进的分析方法（例如微流控、电化学生物传感器、表面增强拉曼光谱[SERS]），用于使用光学和非光学工具分析遗传和表观遗传生物标志物。尽管有这些方法，但尚未实施能够以廉价、简单且高效的方式高特异性和高灵敏度分析结直肠癌的金标准检测方法。此外，到目前为止，尚无研究对这些方法的优缺点进行批判性综述。在此，将讨论用于结直肠癌的最常用遗传和表观遗传生物标志物及其检测方法的概述。此外，还将总结现有技术的主要生物学、技术和临床挑战以及优缺点。
