Sarcouncil Journal of Medical Series

Abstract: Background: Colorectal cancer (CRC) develops through the accumulation of genetic mutations which disrupt essential signaling pathways. The identification of recurring genetic mutations together with their clinical associations forms the basis of precision oncology research. Methods: The study conducted a systematic review of nine studies which published research between 2023 and 2025 according to the PICO framework and PROSPERO-registered protocol. The researchers conducted a search through PubMed, Scopus Web of Science, and grey literature sources. The research included studies that had undergone peer review and examined CRC mutation profiling through next-generation sequencing or bioinformatics methods. The researchers used the Newcastle-Ottawa Scale to evaluate study quality. The researchers observed that people who had APC mutations also had TP53 and KRAS mutations. People who had APC mutations lived longer, while KRAS, BRAF, and RNF43 mutations forecasted worse outcomes. The researchers discovered a four-gene prognostic signature and two immunotherapy-related markers, which included microsatellite instability and TMB markers. The three studies included in the research reported sample sizes which varied from 111 to 7,317, while the other studies provided no information about their research populations. The pathogenesis of CRC develops through a small number of driver mutations which affect the Wnt, MAPK, and p53 pathways. Genomic profiling provides two benefits, which include predicting patient outcomes and identifying treatment options. The research requires large-scale, standardized studies in order to confirm the results and enable their use in clinical settings.