Cancer Genetics and Epigenetics 2024, Vol.12, No.2, 106-114 http://medscipublisher.com/index.php/cge 107 occurrence, development, and treatment. This study aims to provide references for further exploration in the field of cancer research, offering a comprehensive perspective to researchers and clinicians and promoting the advancement of personalized and precise cancer treatment. 2 Overview of Cancer Genomics 2.1 Characteristics of cancer genomes Research in cancer genomics has revealed a series of characteristics at the genomic level of tumor cells, highlighting genetic variations and genomic instability in the development of cancer. These features collectively depict a highly complex, heterogeneous, and evolving genomic landscape. Cancer cells often accumulate a significant number of gene mutations, including point mutations, deletions, insertions, and copy number variations. These mutations can affect key regulatory genes and signaling pathways, driving cellular transformation. The chromosomal structure of cancer cells frequently undergoes major variations, such as chromosomal breaks, rearrangements, and deletions. These structural variations lead to gene misplacement and recombination, further promoting tumor formation. Cancer cells often exhibit genomic instability, manifesting as abnormalities in chromosome number and structure during cell division. This instability contributes to the diversity and evolution of tumor cells. Cancer genomics research has found that the activation of oncogenes and the inactivation of tumor suppressor genes are major drivers of cancer development (Kontomanolis et al., 2020). Mutations in these genes directly affect critical processes such as cell growth, differentiation, and apoptosis. Genomic variations are influenced not only by internal cellular factors but also by the tumor microenvironment. This includes interactions between tumor cells and surrounding tissues, the immune system, and blood vessels, further shaping the genomic characteristics of tumors. 2.2 Classification and function of cancer-related genes Cancer genomics research has discovered that cancer development is closely related to the abnormal expression and mutations of genes involved in regulating key processes such as cell growth, apoptosis, repair, and differentiation. These cancer-related genes can be broadly classified into two main categories: oncogenes and tumor suppressor genes. Oncogenes include genes that activate cell proliferation, maintain genomic stability, and inhibit apoptosis. Genes that activate cell proliferation include various growth factor receptors and signaling molecules such as the EGFR (epidermal growth factor receptor) and the RAS (Rat Sarcoma viral oncogene homolog) family. Mutations or overexpression of these genes can lead to uncontrolled cell proliferation. Genes that maintain genomic stability include DNA repair-related genes like BRCA1 and BRCA2 (Huang et al., 2022). Mutations in these genes can impair DNA repair mechanisms, increasing the risk of cancer. Genes that inhibit apoptosis, such as members of the BCL2 family, promote cell survival by inhibiting the apoptotic process. Their overexpression can lead to cells evading programmed death and developing into cancer cells. Tumor suppressor genes include genes that regulate the cell cycle, participate in apoptosis, and maintain genomic stability. Genes that regulate the cell cycle, such as TP53 (tumor protein 53) and p16INK4a, prevent abnormal cell proliferation by controlling cell cycle progression. Genes involved in apoptosis, such as APC (adenomatous polyposis coli) and PTEN, guide cells towards programmed death when abnormalities occur. Genes that maintain genomic stability, such as ATM(ataxia-telangiectasia mutated) and CHK2 (checkpoint kinase 2), prevent genomic instability by monitoring and repairing DNA damage. These genes play crucial regulatory roles in normal cells, but when they mutate or are abnormally expressed, they can cause cells to lose their normal growth and regulatory mechanisms, thereby promoting cancer. 2.3 Development and application of genomic technologies In recent years, with the rapid development of genomic technologies, researchers have made significant progress in understanding cancer genomes. The breakthrough of next-generation sequencing (NGS) technology is crucial for obtaining comprehensive genomic information from cancer patients. Technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS) have enabled researchers to reveal the genetic variations in cancer more comprehensively.
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