Abbes S, Baldi S, Sellami H, Amedei A, Keskes L. Molecular methods for colorectal cancer screening: Progress with next-generation sequencing evolution. World J Gastrointest Oncol 2023; 15(3): 425-442 [PMID: 37009313 DOI: 10.4251/wjgo.v15.i3.425]
Corresponding Author of This Article
Amedeo Amedei, MSc, Associate Professor, Department of Experimental and Clinical Medicine, University of Florence, Viale G. Pieraccini 6, Florence 50134, Italy. amedeo.amedei@unifi.it
Research Domain of This Article
Oncology
Article-Type of This Article
Review
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Salma Abbes, Laboratory of Parasitic and Fungal Molecular Biology, University of Sfax, Sfax 3029, Tunisia
Simone Baldi, Amedeo Amedei, Department of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy
Hayet Sellami, Drosophila Research Unit-Parasitology and Mycologie Laboratory, University of Sfax, Sfax 3029, Tunisia
Amedeo Amedei, SOD of Interdisciplinary Internal Medicine, Careggi University Hospital, Florence 50134, Italy
Leila Keskes, Laboratory of Human Molecular Genetic, University of Sfax, Sfax 3029, Tunisia
Author contributions: Abbes S and Baldi B contributed to the conceptualization and revision of the literature; Abbes S contributed to the original draft preparation; Sellami H, Amedei A and Keskes L contributed to critical revision and supervised the manuscript; Abbes S and Baldi S wrote the review and edited; Amedei A and Keskes L contributed to the funding acquisition; All authors have read and agreed to the published version of the manuscript.
Supported byMICAfrica Project, which is funded by The European Commission Programme 2020-WIDE SPREAD-05-2020-Twinning Grant Agreement, No. 952583.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Amedeo Amedei, MSc, Associate Professor, Department of Experimental and Clinical Medicine, University of Florence, Viale G. Pieraccini 6, Florence 50134, Italy. amedeo.amedei@unifi.it
Received: November 30, 2022 Peer-review started: November 30, 2022 First decision: December 9, 2022 Revised: January 2, 2023 Accepted: February 14, 2023 Article in press: February 14, 2023 Published online: March 15, 2023
Abstract
Currently, colorectal cancer (CRC) represents the third most common malignancy and the second most deadly cancer worldwide, with a higher incidence in developed countries. Like other solid tumors, CRC is a heterogeneous genomic disease in which various alterations, such as point mutations, genomic rearrangements, gene fusions or chromosomal copy number alterations, can contribute to the disease development. However, because of its orderly natural history, easily accessible onset location and high lifetime incidence, CRC is ideally suited for preventive intervention, but the many screening efforts of the last decades have been compromised by performance limitations and low penetrance of the standard screening tools. The advent of next-generation sequencing (NGS) has both facilitated the identification of previously unrecognized CRC features such as its relationship with gut microbial pathogens and revolutionized the speed and throughput of cataloguing CRC-related genomic alterations. Hence, in this review, we summarized the several diagnostic tools used for CRC screening in the past and the present, focusing on recent NGS approaches and their revolutionary role in the identification of novel genomic CRC characteristics, the advancement of understanding the CRC carcinogenesis and the screening of clinically actionable targets for personalized medicine.
Core Tip: Due to the multitude of host and microbial genetic factors, the optimization of colorectal cancer (CRC) biomarkers remains difficult. The advent of next-generation sequencing (NGS) methods has facilitated the identification of previously unrecognized CRC-related genomic alterations and the CRC relationship with gut microbial composition. Hence, we have summarized the diagnostic tools used for CRC screening in the past and the present, focusing on the revolutionary role of NGS approaches in the identification of novel genomic CRC characteristics, the advancement of understanding the CRC carcinogenesis and the screening of clinically actionable targets for personalized medicine.
