Cancer Genetics and Epigenetics 2024, Vol.12, No.2, 88-96 http://medscipublisher.com/index.php/cge 88 Review Article Open Access Review of DNA Methylation in Early Detection of Breast Cancer MinLi The First Affiliated Hospital, Zhejian Guniversity School of Medncine, Hangzhou, 310009, Zhejiang, China Corresponding email: limin@qq.com Cancer Genetics and Epigenetics, 2024, Vol.12, No.2 doi: 10.5376/cge.2024.12.0011 Received: 15 Feb., 2024 Accepted: 20 Mar., 2024 Published: 03 Apr., 2024 Copyright © 2024 Li, 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: Li M., 2024, Review of DNA methylation in early detection of breast cancer, Cancer Genetics and Epigenetics, 12(2): 88-96 (doi: 10.5376/cge.2024.12.0011) Abstract Breast cancer remains one of the leading causes of death for women worldwide, underscoring the importance of early detection. As one of the key epigenetic mechanisms, DNA methylation provides a promising marker for early breast cancer diagnosis. Various techniques for DNA methylation, including disulfiram sequencing, methylation-specific PCR, pyrosequencing, and microarrays, provide insights into the epigenetic changes that drive tumorigenesis. This study synthesizes the current knowledge on the clinical application of DNA methylation markers in non-invasive early detection, discusses challenges including variability in methylation patterns and technical limitations, and the clinical and ethical considerations that affect the implementation of these technologies. This study aims to uncover specific methylation patterns and their epigenetic changes in breast carcinogenesis, thereby exploring and validating new biomarkers. Improve the early detection rate of breast cancer and the quality of life of patients. Keywords DNA Methylation, Breast Cancer, Early Detection, Epigenetic Biomarkers, Non-Invasive Diagnosis 1 Introduction Breast cancer remains one of the most prevalent and deadly cancers among women worldwide, with early detection being crucial for improving patient outcomes and survival rates. Traditional screening methods, such as mammography, have significantly reduced breast cancer mortality, particularly in women over the age of 50. However, these methods have limitations, including reduced sensitivity in certain populations and high false-positive rates, which can lead to unnecessary biopsies and anxiety (Brooks et al., 2009; Shan et al., 2016; Zhang et al., 2023). Therefore, there is a pressing need for more accurate, minimally invasive, and cost-effective screening techniques that can be used alongside existing methods to enhance early detection. DNA methylation, an epigenetic modification involving the addition of a methyl group to the DNA molecule, plays a critical role in gene regulation and has been implicated in the early stages of carcinogenesis. Aberrant DNA methylation patterns, particularly the hypermethylation of tumor suppressor gene promoters, are common in various cancers, including breast cancer. These methylation changes can be detected in circulating cell-free DNA (cfDNA) in the blood, making them promising biomarkers for non-invasive cancer detection (Nunes et al., 2018; Constâncio et al., 2020; Liu et al., 2020; Liu et al.,2021). Recent advances in high-throughput sequencing and methylation-specific PCR techniques have enabled the development of sensitive and specific assays to detect these epigenetic alterations, offering a potential complementary tool to traditional imaging methods (Li et al., 2020; Roy et al., 2020). This study evaluates the current status of DNA methylation as a biomarker for early detection of breast cancer. We provide a comprehensive overview of the methods used, the sensitivity and specificity of the various methylation markers, and the potential clinical applications of these findings. By synthesizing the available evidence, this study highlight the promise of DNA methylation-based assays in improving early breast cancer detection and identify areas where further research is needed to facilitate their integration into clinical practice. 2 Technologies for Detecting DNA Methylation 2.1 Bisulfite sequencing Bisulfite sequencing is a widely used method for detecting DNA methylation. This technique involves treating DNA with sodium bisulfite, which converts unmethylated cytosines to uracil while leaving methylated cytosines
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