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Molecular methods for colorectal cancer screening:Progress with next-generation sequencing evolution

World Journal of Gastrointestinal Oncology 2023年第3期15卷 425-442页

作者： Salma Abbes Simone Baldi Hayet Sellami Amedeo Amedei leila Keskes Laboratory of Parasitic and Fungal Molecular Biology University of SfaxSfax 3029Tunisia Department of Experimental and Clinical Medicine University of FlorenceFlorence 50134Italy Drosophila Research Unit-Parasitology and Mycologie Laboratory University of SfaxSfax 3029Tunisia SOD of Interdisciplinary Internal Medicine Careggi University HospitalFlorence 50134Italy Laboratory of Human Molecular Genetic University of SfaxSfax 3029Tunisia

Currently,colorectal cancer(CRC)represents the third most common malignancy and the second most deadly cancer worldwide,with a higher incidence in developed *** 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 ***,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 *** 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 ***,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.

关键词： Colorectal cancer Gut microbiota Colorectal cancer screening Next-generation sequencing

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