Cancer Genetics and Epigenetics 2024, Vol.12, No.6, 317-328 http://medscipublisher.com/index.php/cge 319 demonstrated that Indonesian CRC patients possess a unique genetic mutation profile, with significant differences in survival rates among patients with different mutation combinations. Notably, patients with co-mutations in APC, TP53, PIK3CA, and MLH1 had the highest survival rates (Figure 1). This finding enhances the understanding of the genetic characteristics of Indonesian CRC patients and provides a basis for precision medicine. Figure 1 Survival Rates of Indonesian Colorectal Cancer Patients with Different Gene Mutation Combinations (Adapted from Marbun et al., 2022) Image caption: The figure presents four groups representing various combinations of mutations in the APC, TP53, PIK3CA, KRAS, and MLH1 genes. The results show that patients with quadruple mutations in APC, TP53, PIK3CA, and MLH1 (Group 2) have the highest survival rate, with a median survival time of 1,197 days. In contrast, patients with quadruple mutations in APC, TP53, PIK3CA, and KRAS (Group 1) have the shortest survival time, with a median of 577 days. The figure clearly illustrates the survival trends of each group post-treatment, highlighting the significant impact of gene mutation types on patient prognosis (Adapted from Marbun et al., 2022) 2.3 Emerging genetic markers In addition to the well-known mutations in APC, KRAS, TP53, and BRAF, several other genetic markers are emerging as important in colorectal cancer. These include mutations in genes such as PIK3CA, SMAD4, and NRAS, which have been implicated in tumor progression and metastasis (Baratti et al., 2020). PIK3CA mutations, for example, are associated with resistance to certain targeted therapies and worse outcomes in metastatic CRC. SMAD4 mutations are linked to increased risk of distant metastasis, particularly in combination with other mutations like KRAS and TP53 (Shida et al., 2023). The identification of these and other emerging genetic markers offers new opportunities for personalized treatment approaches in colorectal cancer. 3 Methodologies for Detecting Genetic Mutations in CRC The detection of genetic mutations in colorectal cancer (CRC) is essential for accurate diagnosis, prognosis, and the development of targeted therapies. Several advanced methodologies have been developed to identify these mutations with high sensitivity and specificity. 3.1 Next-generation sequencing (NGS) Next-Generation Sequencing (NGS) has revolutionized the field of genomic analysis by allowing the simultaneous sequencing of multiple genes with high accuracy and depth. NGS involves the use of massively parallel sequencing technologies to detect mutations across a wide range of genes associated with CRC. The process includes DNA extraction, library preparation, sequencing, and data analysis. NGS is highly versatile and can detect a variety of mutations, including single nucleotide variants, insertions, deletions, and copy number variations. It is commonly used to profile the mutation landscape in CRC, providing valuable insights for personalized treatment plans (He et al., 2022). NGS is also employed in the detection of microsatellite instability (MSI) and hypermutation in CRC, which are important for identifying patients who may benefit from immunotherapy (Kim et al., 2019).
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