Cancer Genetics and Epigenetics 2024, Vol.12, No.5, 279-293 http://medscipublisher.com/index.php/cge 279 Research Insight Open Access Exploring Early Detection Methods of Breast Cancer from the Perspective of Genetic Diagnosis ChengQian 1 Zhuji People's Hospital, Zhuji, 311800, Zhejiang, China 2 Zhuji Hospital ofWenzhou Medical University, Zhuji, 311800, Zhejiang, China Corresponding email: 523969061@qq.com Cancer Genetics and Epigenetics, 2024, Vol.12, No.5 doi: 10.5376/cge.2024.12.0027 Received: 16 Aug., 2024 Accepted: 26 Sep., 2024 Published: 14 Oct., 2024 Copyright © 2024 Qian 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: Qian C., 2024, Exploring early detection methods of breast cancer from the perspective of genetic diagnosis, Cancer Genetics and Epigenetics, 12(5): 279-293 (10.5376/cge.2024.12.0027) Abstract This study explores the current status and future development of genetic diagnostic technologies in the early detection of breast cancer. The genetic heterogeneity of breast cancer requires more precise diagnostic tools to identify specific genetic mutations and expression profiles. Through techniques such as multigene assays (MGAs) and liquid biopsies, high-risk individuals can be identified early, allowing for optimized personalized treatment plans and improved prognosis predictions. Non-invasive technologies like circulating tumor DNA (ctDNA) testing and blood-based mRNA tests show great potential for early cancer screening. Additionally, the study highlights the contributions of genetic data and big data analysis to early breast cancer detection and their applicability across diverse populations. However, the widespread application of genetic diagnosis faces challenges related to technical, ethical, and social equity issues. The study calls for increased investment in the development of advanced genetic testing technologies and advocates for integrating genetic testing into routine breast cancer screening programs to improve detection rates and reduce breast cancer mortality. Keywords Breast cancer; Genetic diagnosis; Multigene assays (MGAs); Liquid biopsy; Non-invasive screening 1 Introduction Breast cancer is the most commonly diagnosed cancer among women worldwide, and early detection is crucial for improving patient outcomes. When breast cancer is detected at an early stage, patients generally have a better prognosis, require less extensive treatment, and have higher survival rates (Jotwani and Gralow, 2012; Crosby et al., 2022). Despite advancements in screening methods such as mammography, a significant number of breast cancer cases are still diagnosed at advanced stages, highlighting the need for more effective early detection strategies (Silva et al., 2019; Liu et al., 2020). The field of genetic diagnosis has seen remarkable advancements in recent years, driven by a deeper understanding of cancer biology and technological innovations. Genetic testing has become a cornerstone in the diagnosis and management of various cancers, including breast cancer. Techniques such as gene expression profiling, multigene assays, and the analysis of circulating tumor DNA (ctDNA) have enhanced the precision of cancer diagnosis and treatment (Wang, 2017; Wisesty et al., 2020; Yang et al., 2023). These methods allow for the identification of genetic mutations and alterations that are indicative of cancer, enabling earlier and more accurate detection (Mohammadpour et al., 2021; Zubair et al., 2021). Genetic diagnosis offers a promising avenue for the early detection of breast cancer. By identifying specific genetic markers and mutations associated with the disease, it is possible to detect cancer at its nascent stages, even before clinical symptoms appear. Techniques such as liquid biopsy, which analyzes ctDNA in blood samples, and genome-wide DNA methylation analyses have shown potential in improving the accuracy of early breast cancer detection (Liu et al., 2020; Mohammadpour et al., 2021). Additionally, the integration of genetic testing with traditional imaging methods can reduce false positives and unnecessary biopsies, thereby refining the early detection process (Wang, 2017; Zubair et al., 2021). This study will conduct an in-depth analysis of the current application of genetic diagnostics in the early detection
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