Cancer Genetics and Epigenetics 2024, Vol.12, No.3, 157-165 http://medscipublisher.com/index.php/cge 164 4.3 Breakthroughs in immunotherapy Immunotherapy represents a significant breakthrough in cancer treatment, based on mobilizing the patient's immune system to fight cancer cells. Through mutation analysis, scientists can identify the mutation burden in a patient's tumor cells, i.e., the accumulation of mutations. There is a correlation between these mutation burdens and the patient's immune response. Mutation analysis revealed mutation antigens in patient tumors, providing crucial information for the development of targeted vaccines and immune checkpoint inhibitors. The clinical success of immunotherapy, such as the application of immune checkpoint inhibitors, has benefited an increasing number of patients. This groundbreaking treatment method has achieved significant success in various cancer types. 5 Summary and Outlook This review delved into the key aspects of cancer mutation analysis, including types of mutations, molecular biology techniques, clinical applications, and success stories. Cancer mutations are diverse, including point mutations, deletions, insertions, and structural variations, providing multiple dimensions for cancer research. Genomic sequencing technologies, particularly next-generation sequencing (NGS), have become powerful tools for identifying and validating cancer mutations (Zhao et al., 2023). The development of data management and bioinformatics tools is crucial for cancer mutation analysis, helping researchers effectively store, analyze, and interpret vast amounts of biological information data. Personalized treatment and precision medicine are transforming the paradigm of cancer treatment, allowing doctors to provide the most suitable treatment plan for each patient. Cancer mutation analysis holds broad potential and applications in drug development. By deeply studying the genetic variations in cancer, researchers can identify drug targets and develop more targeted anticancer drugs. Identifying mechanisms of drug resistance allows for early adjustment of treatment plans. Improving the efficiency of clinical trials ensures that drugs progress to market faster. Providing better treatment options for clinicians improves patient survival rates and quality of life. These applications will continue to highlight the importance of cancer mutation analysis in drug development, providing more opportunities for the discovery and development of new drugs. Despite significant progress in cancer mutation analysis, challenges and issues remain to be addressed. With the continuous advancement of bioinformatics technologies, the volume of data generated is increasing rapidly, making data management and privacy issues particularly important. Future research needs to develop better data storage and sharing policies while ensuring patient privacy rights are protected. Cancer mutation analysis requires multidisciplinary collaboration, including experts from biology, medicine, bioinformatics, and pharmaceutical chemistry. Future research will emphasize interdisciplinary cooperation to more comprehensively understand the complexity of cancer mutations. With continuous technological advancements, we can expect more innovations in cancer mutation analysis. Some emerging trends may include the widespread application of single-cell analysis to better understand mutations within heterogeneous tumors, more research on immunotherapy to provide additional treatment options for cancer patients, more complex data analysis methods and tools to handle large-scale biological information data. In conclusion, the future of cancer mutation analysis is full of promise and will continue to contribute to the personalization and precision of cancer treatment. 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 Aleksakhina S.N., and Imyanitov E.N., 2021, Cancer therapy guided by mutation tests: current status and perspectives, International Journal of Molecular Sciences, 22(20): 10931. https://doi.org/10.3390/ijms222010931 PMid:34681592 PMCid:PMC8536080
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