Cancer Genetics and Epigenetics 2024, Vol.12, No.5, 270-278 http://medscipublisher.com/index.php/cge 275 treatment approaches, informed by comprehensive genomic data, have shown promising results in improving patient outcomes. 8.2 Novel therapeutic approaches targeting genetic alterations With the growing understanding of the genetic landscape of esophageal cancer, novel targeted therapies have been developed to specifically address these alterations. Immunotherapy, including immune checkpoint inhibitors targeting PD-L1, has emerged as a viable option, particularly in patients with high tumor mutational burden. Additionally, therapies targeting EGFR, HER2, and PIK3CA are being explored as part of personalized oncology strategies for esophageal cancer (Sicklick et al., 2019). The use of combination therapies based on molecular alterations has demonstrated increased efficacy in controlling tumor progression, offering hope for improved survival rates. 8.3 Policy and global health perspectives on genetic screening and cancer prevention As the adoption of personalized medicine grows, there is a need for policy frameworks that support genetic screening and early detection in high-risk populations. Genetic screening programs for esophageal cancer could identify individuals with hereditary mutations, such as in BRCA2 or TP53, enabling early interventions. Furthermore, the accessibility of genomic technologies in low-resource settings remains a challenge, highlighting the importance of global collaborations and funding initiatives to ensure equitable access to precision medicine across different regions (Furukawa, 2018). 9 Concluding Remarks Over the past few years, significant genetic insights have been gained into esophageal cancer, particularly in understanding the roles of key mutations and pathways involved in tumorigenesis. Common mutations in genes like TP53, PIK3CA, NOTCH1, and CDKN2A have been identified in both esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC). Additionally, advancements in genomics and epigenetic research have revealed the importance of DNA methylation, chromatin modifications, and non-coding RNAs in driving cancer progression. These discoveries have helped identify potential therapeutic targets and have led to the development of biomarkers for early detection and treatment stratification. Future research should focus on further refining genetic profiling for esophageal cancer, particularly in high-risk populations. The development of more accurate and accessible genomic screening tools could facilitate earlier detection, especially in individuals with hereditary risk factors. In addition, ongoing research into epigenetic modifications and tumor microenvironment interactions should be translated into clinical settings to improve therapeutic outcomes. Novel therapeutic strategies, such as targeting the PI3K/AKT/mTOR pathway, immune checkpoint inhibitors, and CRISPR-based gene editing, hold promise for improving patient prognosis. The role of genetics in cancer prevention and treatment continues to evolve, with personalized medicine becoming an increasingly important aspect of clinical care. Genetic and epigenetic profiling not only aids in early detection but also allows for the development of targeted therapies tailored to individual tumor profiles. As genomic technologies advance, integrating these insights into public health policies and clinical practice will be crucial in reducing the global burden of esophageal cancer. Acknowledgments Sincere thanks to the peer reviewers for their valuable feedback on the initial draft of this manuscript. Conflict of Interest Disclosure The author affirms that this research was conducted without any commercial or financial relationships that could be construed as a potential conflict of interest. References Buas M.F., Yan, L., Peng, X., Qi, Q., Chen, J., Thrift A., He Q., Onstad L., Gharahkhani P., Macgregor S., Vaughan T.L., and Madeleine M.M., 2019, Germline variation in DNA repair genes and risk of Barrett’s esophagus and esophageal adenocarcinoma, Cancer Research, 79(13_Supplement): 1588. https://doi.org/10.1158/1538-7445.SABCS18-1588 Furukawa Y, 2018, Implementation of genomic medicine for gastrointestinal tumors, Annals of Gastroenterological Surgery, 2(4): 246-252.
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