Cancer Genetics and Epigenetics 2024, Vol.12, No.2, 70-78 http://medscipublisher.com/index.php/cge 71 1 Genomic Characteristics of Cancer 1.1 Genomic variations and mutations in cancer Genomic variations and mutations are crucial in the initiation, progression, and metastasis of cancer. These changes are not only alterations in single genes but involve multiple genes, signaling pathways, and complex network interactions. They can occur in the coding regions, regulatory areas, or non-coding regions of genes, leading to altered protein functions, abnormal gene expression, and uncontrolled cell growth and division (Preethi et al., 2021). Common types of genomic variations in cancer include point mutations, insertions, and deletions, which can result in the loss or gain of protein functions. Additionally, changes in chromosomal structures such as translocations, inversions, and deletions can affect the expression and regulation of multiple genes. The accumulation and interaction of these mutations and variations in cancer cells confer malignant phenotypes such as limitless proliferation, evasion of immune surveillance, and resistance to apoptosis. 1.2 Role of genomics in cancer initiation, progression, and metastasis Cancer often begins with minor genomic variations that may arise from environmental factors, genetic predispositions, or random errors. Over time, these variations accumulate and expand, leading to uncontrolled cell growth and division, ultimately forming visible tumors. Genomics plays a critical role in the initiation, development, and spread of cancer. During cancer progression, genomics reveals how cancer cells evade the immune system, resist apoptosis, and acquire enhanced growth and invasive capabilities. In-depth genomic studies have identified mutations in various cancer-related genes, such as the inactivation of tumor suppressor genes and activation of oncogenes, playing key roles in cancer advancement (Yuan et al., 2019). Cancer metastasis, the spread of cancer cells from the primary site to other parts of the body, involves multiple complex steps. Genomics has shown how cancer cells modify their adhesiveness, motility, and invasiveness to facilitate this process. Additionally, it reveals how cancer cells interact with the host environment to exploit host cells for nutrients and support, and how they evade host immune attacks. 1.3 Implications of genomic research for cancer treatment In-depth study of the genomic characteristics of cancer allows for a more accurate understanding of the nature and mechanisms of cancer, providing more precise and personalized guidance for treatment strategies. Genomic research has identified key gene mutations and signaling pathway abnormalities in cancer, offering direct targets for targeted therapy and immunotherapy. For instance, specific gene mutations can be targeted with drugs that precisely attack cancer cells while minimizing toxicity to normal cells. Similarly, genomic studies have uncovered molecular mechanisms related to cancer immune evasion, leading to the development of immunotherapies that activate the patient's immune system to attack cancer cells (Aiello et al., 2018). Furthermore, genomic research can predict cancer prognosis and the risk of recurrence, providing more personalized treatment and management plans for patients. Comprehensive analysis of the cancer genome enables assessment of tumor type, stage, molecular characteristics, and more, predicting responses and efficacy to different treatment regimens. This helps doctors select the most suitable treatment options for patients and adjust strategies in time to improve treatment outcomes. 2 Principles of Personalized Cancer Treatment 2.1 Concept and principles of personalized medicine Personalized medicine, also known as precision medicine or tailored medicine, is an emerging medical model that emphasizes creating and optimizing treatment plans based on the unique physiological, genetic, and environmental characteristics of each patient. The concept of personalized medicine is founded on a profound understanding of the human genome and biodiversity, challenging the traditional “one-size-fits-all” treatment approach in conventional medical practice. It proposes more refined and individualized methods for disease prevention, diagnosis, and treatment (Guthrie et al., 2019).
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