Cancer Genetics and Epigenetics 2024, Vol.12, No.2, 97-105 http://medscipublisher.com/index.php/cge 97 Feature Review Open Access The Role of Genetic Markers in Early Screening of Prostate Cancer Liting Wang Hainan Institute of Biotechnology, Haikou, 570206, Hainan, China Corresponding email: liting.wang@hibio.org Cancer Genetics and Epigenetics, 2024, Vol.12, No.2 doi: 10.5376/cge.2024.12.0012 Received: 28 Feb., 2024 Accepted: 05 Apr., 2024 Published: 18 Apr., 2024 Copyright © 2024 Wang, 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: Wang L.T., 2024, The role of genetic markers in early screening of prostate cancer, Cancer Genetics and Epigenetics, 12(2): 97-105 (doi: 10.5376/cge.2024.12.0012) Abstract Prostate cancer is one of the most common cancers among men worldwide, and early screening and diagnosis are essential for improving treatment outcomes. This study emphasizes genetic susceptibility and key genetic markers such as BRCA1, BRCA2, and HOXB13, analyzing their variability across different ethnic groups and exploring advanced genetic screening technologies such as Next-Generation Sequencing (NGS), Genome-Wide Association Studies (GWAS), and liquid biopsies. These technologies have improved the precision of screening and helped reduce overdiagnosis and overtreatment. However, the application of these technologies also faces challenges such as genetic heterogeneity, ethical issues, and the accessibility and cost-effectiveness of screening. This research deeply investigates the critical role of genetic markers in the early screening of prostate cancer, particularly in predicting the disease's genetic susceptibility, with the goal of further optimizing early screening and management strategies for prostate cancer through genetics. Keywords Prostate cancer; Genetic susceptibility; Genetic markers; Next-generation sequencing (NGS); Genome-wide association studies (GWAS) 1 Introduction Prostate cancer (PCa) is the most frequently diagnosed malignancy among men in the Western world and remains the second leading cause of cancer-related deaths in this population. Despite widespread screening efforts, including the use of prostate-specific antigen (PSA) testing, the disease continues to pose significant clinical challenges. PSA testing, while useful for early detection, has limited specificity and often leads to the diagnosis of indolent cancers that may not require aggressive treatment, resulting in unnecessary morbidity. The genetic basis of prostate cancer is well-established, with familial and hereditary patterns observed, suggesting a strong genetic component to the disease (Lynch et al., 2016). Recent advances in genomic research have identified several genetic markers associated with the initiation and progression of prostate cancer. These markers include inherited genetic variants, single nucleotide polymorphisms (SNPs), and gene expression signatures that can potentially improve the accuracy of screening and prognostication (Hughes et al., 2012; Choudhury et al., 2012). For instance, genome-wide association studies have pinpointed multiple SNPs linked to increased PCa susceptibility, while urine-based assays and gene expression profiles have shown promise in distinguishing between indolent and aggressive forms of the disease (Downes et al., 2007; Cucchiara et al., 2018). Additionally, specific genetic mutations, such as those in the BRCA2 gene, have been associated with poorer prognosis and may guide therapeutic decisions (Cui et al., 2017). This study provides a comprehensive overview of the potential applications of genetic markers in identifying high-risk individuals, improving screening techniques, and guiding clinical decisions. It includes assessments of genetic gene variants, SNPs, gene expression profiles, and other emerging biomarkers, with a focus on their clinical utility and validation in large-scale studies. The study also discusses the challenges and future directions of integrating genetic markers into routine clinical practice for the early detection and management of prostate cancer. By synthesizing current research findings, this study aims to provide insights for future research and clinical strategies in early prostate cancer screening using genetic markers.
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