Cancer Genetics and Epigenetics 2024, Vol.12, No.2, 79-87 http://medscipublisher.com/index.php/cge 79 Systematic Review Open Access Advances and Prospects in Whole-Genome Sequencing Studies of Prostate Cancer Liqin Guo, Jiayi Wu Biotechnology Research Center, Cuixi Academy of Biotechnology, Zhuji, 311800, Zhejiang, China Corresponding author: jiayi.wu@cuixi.org Cancer Genetics and Epigenetics, 2024, Vol.12, No.2 doi: 10.5376/cge.2024.12.0010 Received: 01 Feb., 2024 Accepted: 05 Mar., 2024 Published: 21 Mar., 2024 Copyright © 2024 Guo and Wu, 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: Guo L.Q., and Wu J.Y., 2024, Advances and prospects in whole-genome sequencing studies of prostate cancer, Cancer Genetics and Epigenetics, 12(2): 79-87 (doi: 10.5376/cge.2024.12.0010) Abstract Prostate cancer remains a significant clinical challenge due to its complex genetic landscape and the difficulty in predicting disease progression and treatment response. Recent advances in whole-genome sequencing (WGS) have provided deeper insights into the genetic alterations driving prostate cancer, offering new avenues for personalized treatment strategies. This study synthesizes findings from multiple studies that have employed WGS to identify novel driver mutations, potential therapeutic targets, and biomarkers for treatment response in prostate cancer. Key discoveries include the identification of new putative driver genes, such as NEAT1 and FOXA1, and the elucidation of the role of noncoding mutations in disease progression. Integrative high-throughput sequencing has demonstrated the feasibility of identifying clinically actionable mutations within a clinically relevant timeframe, facilitating biomarker-driven clinical trials. Studies have also highlighted the genomic heterogeneity of prostate cancer, with frequent alterations in genes such as AR, TP53, and PTEN, and the presence of actionable mutations in a significant proportion of cases. Additionally, the use of liquid biopsies for WGS has emerged as a promising non-invasive approach to monitor metastatic castration-resistant prostate cancer (mCRPC) and guide personalized treatment. This study underscores the potential of WGS to transform the clinical management of prostate cancer by enabling precision medicine approaches tailored to the genetic profile of individual tumors. Keywords Whole-genome sequencing; Prostate cancer; Driver mutations; Biomarkers; Personalized treatment 1 Introduction Prostate cancer (PCa) is one of the most prevalent malignancies affecting men worldwide and is a leading cause of cancer-related mortality, particularly in Western countries (Gudmundsson et al., 2012). The disease exhibits significant clinical heterogeneity, ranging from indolent tumors that may not require immediate treatment to aggressive forms that can be fatal (Baca and Garraway, 2012). Genetic factors play a crucial role in the development and progression of PCa, with both germline and somatic mutations contributing to its pathogenesis (Nakagawa, 2013). Family history is a well-known risk factor, and recent studies have identified numerous genetic variants associated with increased susceptibility to PCa (Schaid et al., 2020). Whole-genome sequencing (WGS) has emerged as a powerful tool for uncovering the genetic underpinnings of various cancers, including PCa. By providing a comprehensive view of the entire genome, WGS allows for the identification of both common and rare genetic alterations that drive cancer development and progression (Ren et al., 2017; Jaratlerdsiri et al., 2018). High-throughput sequencing technologies have facilitated the discovery of novel mutations, gene fusions, and other genomic aberrations that are critical for understanding the molecular mechanisms of PCa (Roychowdhury and Chinnaiyan, 2013; Liu et al., 2019). These insights have the potential to inform the development of precision medicine approaches, enabling more accurate diagnosis, prognosis, and targeted therapies (Roychowdhury and Chinnaiyan, 2013). This study synthesizes the latest advancements in prostate cancer (PCa) whole-genome sequencing (WGS) research, highlighting key genetic alterations and their impact on disease progression and treatment. By examining the results of multiple WGS studies, the research provides a comprehensive overview of the genomic landscape of PCa, identifies potential biomarkers for clinical use, and discusses future research prospects in the field. The study
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