Cancer Genetics and Epigenetics 2024, Vol.12, No.3, 157-165 http://medscipublisher.com/index.php/cge 162 3.1.2 Immunotherapy Immunotherapy is a treatment method that utilizes the patient's own immune system to combat cancer. Cancer mutation analysis can help determine whether the patient's tumor has a high tumor mutation burden (TMB), indicating a large number of mutations in the tumor. Tumors with high TMB are usually more easily recognized and attacked by the immune system. Therefore, for these patients, immune checkpoint inhibitors such as PD-1 and CTLA-4 inhibitors may be effective treatment options. Additionally, by analyzing the tumor's mutation burden and immune cell infiltration, it is possible to better predict the efficacy of immunotherapy, thereby achieving a more personalized treatment strategy. 3.2 Drug development 3.2.1 Drug screening and design Drug screening and design are key applications of cancer mutation analysis in the field of drug development. In the initial stages of drug screening and design, the primary task is to identify potential therapeutic targets or molecules. Cancer mutation analysis plays a crucial role in this process by revealing key gene mutations associated with the occurrence and development of cancer. By analyzing the mutation profiles of different types of cancer patients, researchers can identify common pathogenic mutations or mutational pathways that can serve as potential therapeutic targets. Once potential therapeutic targets are identified, researchers can conduct in vitro drug screening experiments. This typically involves applying known or potential anticancer drugs to tumor cell lines or animal models to evaluate their inhibitory effects on specific targets or mutations. These experiments can help determine which drugs have the best inhibitory effects on specific mutations or mutational pathways. In addition to existing drug screening, drug development also involves the design and development of new drugs. Cancer mutation analysis provides valuable information for drug design. Researchers can design drug molecules with higher affinity and selectivity based on known mutation structures. These drugs may be targeted, capable of precisely intervening in specific mutations or mutational pathways, thereby reducing unnecessary side effects. After drug screening and design, candidate drugs need to undergo comprehensive evaluation, including preclinical and clinical trials. In these stages, the efficacy and safety of the drugs will be validated to ensure their feasibility in clinical treatment. 3.2.2 Drug resistance research Drug resistance research is another important aspect of cancer mutation analysis in drug development and treatment. Drug resistance refers to the phenomenon where patients initially respond effectively to a therapeutic drug, but over time, cancer cells gradually lose sensitivity to the drug, leading to diminished or failed treatment efficacy. The mechanisms of drug resistance are complex and may involve various factors. Cancer mutation analysis can help uncover the molecular and genetic changes leading to drug resistance (Gao et al., 2020). This includes the emergence of new mutations that alter drug targets or activate resistance-related pathways within the cells. Understanding these mechanisms is crucial for finding new strategies to combat resistance. Researchers aim to identify biomarkers that can be used for early detection of drug resistance. By analyzing cancer cells or patient samples, molecular features related to resistance, such as protein expression, gene expression, or mutation status, can be identified. These biomarkers can help predict whether a patient is likely to develop resistance, allowing for early adjustments to treatment plans. Once resistance mechanisms are understood, researchers can develop corresponding treatment strategies. This may include the development of new drugs to overcome known resistance mechanisms or the adoption of combination therapy strategies to simultaneously target multiple resistance pathways. Additionally, optimizing drug dosages and treatment plans can help delay or mitigate the development of resistance. In clinical practice, monitoring patients for drug resistance is crucial. By regularly assessing patients' mutation status and treatment responses, doctors can detect signs of resistance early and adjust treatment plans as needed to prolong efficacy.
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