Cancer Genetics and Epigenetics 2024, Vol.12, No.2, 88-96 http://medscipublisher.com/index.php/cge 94 6.2 Personalized medicine and tailored screening Personalized medicine is becoming increasingly important in the management of breast cancer. The heterogeneity of breast cancer necessitates tailored screening and treatment approaches. DNA methylation markers offer a promising avenue for personalized screening strategies. By identifying specific methylation patterns associated with different subtypes of breast cancer, it is possible to develop individualized screening protocols that can detect cancer at its earliest stages (Wittenberger et al., 2014). Moreover, the integration of methylation markers with genetic and environmental risk factors can enhance risk stratification and enable more precise monitoring of disease progression and treatment response (Hoque et al., 2006; Guan et al., 2018). Future research should aim to identify and validate additional methylation markers that can be used in combination with existing screening methods to improve the accuracy and personalization of breast cancer detection (Suijkerbuijk et al., 2021). 6.3 Integration with other biomarkers and imaging techniques The integration of DNA methylation markers with other biomarkers and imaging techniques holds significant potential for improving breast cancer detection. Combining methylation analysis with traditional imaging methods, such as mammography and ultrasound, can enhance the accuracy of early-stage breast cancer diagnosis and reduce false-positive rates (Liu et al., 2021). Additionally, the use of multi-gene methylation panels can increase the sensitivity and specificity of screening, providing a more comprehensive assessment of cancer risk. Future studies should explore the synergistic effects of combining methylation markers with other molecular and imaging biomarkers to develop robust, multi-modal screening approaches that can be implemented in clinical practice (Roy and Tiirikainen, 2020). This integrated approach has the potential to revolutionize breast cancer screening, leading to earlier detection, better prognosis, and improved patient outcomes. 7 Concluding Remarks The systematic review of DNA methylation in early detection of breast cancer has highlighted several key findings. Whole-blood DNA methylation markers have shown potential as biomarkers, but their diagnostic value remains modest, with only a few markers like HYAL2 and S100P being independently validated. Combining breast ultrasound with methylation markers in circulating tumor DNA has improved diagnostic accuracy, particularly in younger women and those with indeterminate nodules. Studies have also demonstrated that panels of methylated genes in plasma can detect early-stage breast cancer with varying degrees of sensitivity and specificity. Epigenome-wide association studies have identified numerous CpG sites related to breast cancer risk, although there is little overlap between studies. Additionally, cell-free DNA methylation assays have shown promise in distinguishing between benign and malignant breast lesions, potentially reducing unnecessary biopsies. The findings from this study suggest that DNA methylation markers could significantly enhance early detection of breast cancer, leading to better patient outcomes. The integration of methylation markers with traditional imaging techniques like ultrasound can improve diagnostic accuracy and reduce false positives, thereby minimizing unnecessary invasive procedures. Early detection through non-invasive methods such as cell-free DNA methylation assays could lead to earlier interventions, potentially improving survival rates and reducing the burden of advanced disease. Moreover, the ability to predict metastatic potential through methylation markers could aid in patient surveillance and personalized treatment planning. Future research should focus on the validation of promising methylation markers and the development of robust, multi-marker panels that can be reliably used in clinical settings. High-throughput methods and large-scale prospective studies are needed to identify and validate new markers with higher sensitivity and specificity. Additionally, integrating methylation data with other omics data and clinical parameters could enhance the predictive power of these biomarkers. Clinical practice could benefit from the adoption of methylation-based assays as complementary tools to existing screening methods, potentially leading to more accurate and less invasive breast cancer detection strategies. Further exploration into the role of DNA methylation in different subtypes of breast cancer and its relationship with other genetic and environmental factors will also be crucial for advancing personalized medicine in oncology.
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