Cancer Genetics and Epigenetics 2024, Vol.12, No.6, 317-328 http://medscipublisher.com/index.php/cge 317 Review Article Open Access Genetic Mutation Profiles of Colorectal Cancer and Their Prospects in Diagnosis Zeyi Zhang, Haodong Wu, Huimin Sun , Yue Zhao Department of Urology, Xiang’an Hospital of Xiamen University, Xiamen University, Xiamen, 361000, Fujian, China Corresponding author: hlg9999@xmu.edu.cn; hmsun@xah.xmu.edu.cn Cancer Genetics and Epigenetics, 2024, Vol.12, No.6 doi: 10.5376/cge.2024.12.0030 Received: 23 Sep., 2024 Accepted: 30 Oct., 2024 Published: 26 Nov., 2024 Copyright © 2024 Zhang et al., This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Zhao Z.Y., Wu H.D., Sun H.M., and Zhao Y., 2024, Genetic mutation profiles of colorectal cancer and their prospects in diagnosis, Cancer Genetics and Epigenetics, 12(6): 317-328 (doi: 10.5376/cge.2024.12.0030) Abstract Colorectal cancer (CRC) is a complex and highly heterogeneous disease driven by various genetic mutations that play critical roles in tumor initiation, progression, and treatment resistance. This study provides a comprehensive overview of the genetic mutation landscape in CRC, with a focus on key mutations in genes such as APC, KRAS, TP53, and BRAF, which serve as core biomarkers for diagnosis, prognosis, and the development of personalized treatment strategies. The study also discusses advanced methods for detecting genetic mutations, including next-generation sequencing (NGS) and liquid biopsy techniques, and explores the clinical relevance of these mutations in CRC management. Looking ahead, this research examines the future prospects of genetic mutation profile analysis, emphasizing the potential of novel diagnostic markers, the integration of genetic data with other diagnostic tools, and the ongoing development of personalized medicine in CRC management. The study concludes with recommendations for clinical practice and future research, highlighting the importance of adopting personalized treatment strategies and further investigating mechanisms of resistance to improve patient outcomes. Keywords Colorectal cancer (CRC); Genetic mutations; Next-generation sequencing (NGS); Liquid biopsy techniques; Personalized medicine 1 Introduction Colorectal cancer (CRC) is one of the most prevalent and deadly malignancies worldwide, representing a significant public health challenge. It originates in the colon or rectum and is often detected at an advanced stage, contributing to its high mortality rate. Despite advancements in treatment modalities, including surgery, chemotherapy, and radiotherapy, the prognosis for CRC patients remains closely tied to early detection and the molecular characterization of the disease. Understanding the genetic underpinnings of CRC is crucial for improving diagnostic accuracy, predicting disease progression, and tailoring personalized treatment strategies (Santos et al., 2021; Abdullah et al., 2022; Rhead et al., 2023). Genetic mutation profiling has emerged as a pivotal tool in the management of colorectal cancer. Mutations in key genes such as APC, KRAS, TP53, and BRAF play critical roles in the initiation and progression of CRC. These genetic alterations not only drive tumorigenesis but also influence the response to therapy, making them essential biomarkers for diagnosis, prognosis, and therapeutic targeting. Advances in genomic technologies have enabled the comprehensive analysis of these mutations, offering new insights into the molecular landscape of CRC and opening avenues for the development of more effective, individualized treatment regimens (Santos et al., 2019; Wang et al., 2019; Heide et al., 2021). This study provides a comprehensive analysis of the genetic mutation profiles associated with colorectal cancer (CRC) and their impact on clinical practice. The research will explore the most common genetic alterations in CRC, their roles in tumor biology, and their potential applications in diagnosis and treatment. Additionally, it will discuss the latest advancements in genomic analysis technologies and their prospects for enhancing the accuracy of CRC diagnosis. This study highlights the importance of understanding genetic mutation profiles in advancing the diagnosis and management of colorectal cancer, ultimately improving patient outcomes.
RkJQdWJsaXNoZXIy MjQ4ODYzNQ==