Cancer Genetics and Epigenetics, 2025, Vol.13, No.1, 32-40 http://medscipublisher.com/index.php/cge 33 key factor leading to cervical cancer (Bahrami et al., 2018; Gupta and Mania-Pramanik, 2019; Wang et al., 2024). Oncogenes in viruses interact with human genes, which may make genes unstable and cause cancer (Gupta and Mania-Pramanik, 2019). Enzymes such as APOBEC3 have the function of editing DNA, but sometimes they also cause mutations, which may accelerate the development of cervical cancer (Revathidevi et al., 2020). Some genetic changes in the human body, including genetic and epigenetic changes, also play an important role in the transformation of precancerous lesions into invasive cancer (Gupta and Mania-Pramanik, 2019). 2.2 Key genetic mutations and their effects Some specific gene mutations play an important role in the occurrence of cervical cancer. Mutations in genes such as PIK3CA, TP53, and KRAS affect the behavior of cells. For example, mutations in PIK3CA activate the PI3K/AKT signaling pathway, making it easier for cells to divide and survive quickly (Koel et al., 2023). TP53 is usually destroyed by the virus's E6 protein after infection with HPV, resulting in the loss of the cell's self-control ability and easy unrestricted growth (Gupta and Mania-Pramanik, 2019). Although KRAS mutations are relatively rare, they may also be involved in signaling pathways that promote carcinogenesis (Elias et al., 2023). 2.3 HPV infection and its integrated role in genomic changes HPV infection is the most common cause of cervical cancer. Viruses can integrate their DNA into the human genome, which can interfere with the normal functioning of cells (Bahrami et al., 2018; Gupta and Mania-Pramanik, 2019). When viral DNA is integrated, its E6 and E7 genes are expressed in large quantities. These two genes inhibit p53 and Rb proteins, respectively, which are used to prevent carcinogenesis. HPV and some genetic factors in the human body, such as genetic differences in the HLA region, also affect the risk of cervical cancer (Takeuchi et al., 2018; Ramachandran and Dörk, 2021). The integration process of viral DNA itself causes genetic instability and accelerates the development of carcinogenesis (Gupta and Mania-Pramanik, 2019). 3 Genotyping Techniques in Cervical Cancer Research 3.1 Overview of patient genotyping tools When studying cervical cancer, scientists use several different genotyping methods to identify genetic changes that may affect treatment. Next-generation sequencing (NGS) is a common tool. It can detect many cancer-related genes at once for comprehensive analysis. This method can detect somatic mutations and tumor mutation burden (TMB) in patients (Huang et al., 2021; Lan et al., 2021; Friedman et al., 2023). Another method called polymerase chain reaction (PCR) is also frequently used. It is particularly suitable for detecting specific mutations or types of viruses such as HPV (Hirose et al., 2019; Kuno et al., 2019). Although gene chips are less used now, they can still help us understand the overall situation of gene expression or find certain genetic variants (Nguyen et al., 2020). 3.2 Advantages and disadvantages of current technologies The advantage of NGS is that it can check many genetic changes at once, such as point mutations or copy number changes. This is very helpful for doctors to decide whether to use targeted therapy (Table 1; Figure 1) (Sawada et al., 2021; Friedman et al., 2023; Kim et al., 2023). However, NGS has two disadvantages: it is expensive and the analysis process is complicated, requiring professional computational analysis tools. In contrast, PCR is cheap and easy to operate, and can quickly detect specific mutations or viruses with high sensitivity and accuracy (Hirose et al., 2019; Kuno et al., 2019). However, it can only check a few genes at a time. Gene chips can provide a map of the entire gene expression, but cannot find too deep mutation content, and the accuracy is not as good as NGS (Nguyen et al., 2020). 3.3 Emerging technologies for more accurate and convenient genotyping Some new technologies are now making cervical cancer genotyping more accurate and easier. Single-cell sequencing technology can study the differences of each tumor cell. This method can help us understand the differences within the tumor and the impact of the environment around the tumor, which will affect the treatment effect (Crowley et al., 2021). CRISPR-based detection technology is also being studied more and more. This
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