Cancer Genetics and Epigenetics 2024, Vol.12, No.3, 157-165 http://medscipublisher.com/index.php/cge 163 3.3 Early cancer diagnosis Early cancer diagnosis is one of the key factors for successful cancer treatment, as treatment is usually easier and more successful when diagnosed early. The development of liquid biopsy and urine testing represents significant breakthroughs in the field of early cancer diagnosis, with the potential to improve detection rates while reducing patient discomfort and risk. However, these methods often require further research and validation to ensure their accuracy and reliability. 3.3.1 Liquid biopsy Liquid biopsy is a non-invasive diagnostic method that detects cancer by analyzing biomarkers in blood or other body fluids. These biomarkers can include circulating DNA, RNA, proteins, or cells. In cancer patients, cancer cells release these biomarkers into body fluids. By extracting a small amount of blood or other body fluid samples, laboratories can analyze the biomarkers to determine the presence of cancer. The advantage of liquid biopsy is that it is non-invasive, eliminating the need for tissue biopsies or imaging tests. This makes early diagnosis easier while reducing patient discomfort and risk. Liquid biopsy has been applied to various types of cancer, including lung cancer, breast cancer, and colorectal cancer. 3.3.2 Urine testing Similar to liquid biopsy, urine testing is a non-invasive method used for early cancer diagnosis. In this method, urine samples are used to detect specific biomarkers that may be associated with cancer. Urine testing is commonly used for screening cancers of the urinary system, such as bladder cancer. The advantage of urine testing is its convenience; patients can easily collect urine samples without needing special equipment or skills. This method can also be used for regular monitoring of patients and screening high-risk populations. However, the application of urine testing across different types of cancer is relatively limited, as different cancers may involve different biomarkers. 4 Success Stories 4.1 Development of alectinib Alectinib is a targeted therapy drug for lung cancer patients, particularly those with ALK-positive non-small cell lung cancer. The development of Alectinib is one of the outstanding examples of cancer mutation analysis in drug development. In the past, treatment options for lung cancer patients were limited, but through mutation analysis, researchers discovered that certain lung cancer patients carry ALK gene mutations, providing opportunities for targeted therapy (Yin et al., 2022). Alectinib is specifically designed to inhibit the abnormal ALK gene in patients. Through structural and functional analysis, researchers were able to precisely design a drug that interferes with the ALK signaling pathway. Alectinib showed high efficacy in clinical trials, significantly extending the survival of patients with ALK-positive non-small cell lung cancer. This provided strong support for the further development and approval of the drug. Alectinib eventually gained regulatory approval and was applied in clinical practice. This case emphasizes the critical role of mutation analysis in drug development and how these analyses can be translated into innovative cancer treatments. 4.2 Clinical application of osimertinib Osimertinib is an effective drug for the personalized treatment of NSCLC patients, particularly those with the EGFR T790M mutation (Yin et al., 2022). The development of Osimertinib began with an in-depth study of the EGFR T790M mutation. This mutation is one of the main causes of resistance to EGFR inhibitors, but mutation analysis revealed that this mutation is a potent target for treatment. By analyzing the structure and function of the mutation, scientists were able to design Osimertinib, a specific drug that precisely inhibits the EGFR T790M mutation and reduces drug resistance. Osimertinib showed high efficacy in clinical trials, especially for patients with the EGFR T790M mutation. This made Osimertinib a revolutionary lung cancer treatment, offering new hope to this subgroup of patients.
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