Screening and validation of potential molecular markers for colorectal cancer: based on bioinformatics analysis and machine learning.

[UNLABELLED] Colorectal Cancer (CRC) exhibits persistently high incidence and mortality rates worldwide, imposing a substantial socioeconomic burden. Early screening, early diagnosis, and early treatment can significantly improve patients’ survival rates while reducing mortality. However, there remains a lack of effective biomarkers to aid in early screening and diagnosis. As a branch of artificial intelligence, machine learning can automatically analyze large volumes of data, greatly saving human time and resources. The advancement of high-throughput sequencing technology has provided researchers with abundant gene expression data, offering rich data resources for the training and validation of machine learning models. With the development of artificial intelligence, integrating knowledge from bioinformatics, machine learning, molecular biology, and clinical medicine for analysis enables a more comprehensive understanding and exploration of the molecular biological mechanisms underlying CRC. In summary, this project aims to utilize machine learning techniques to screen five CRC signature genes (ABCG2, SCGN, USP2, CLDN1, and EPHX4) from GEO datasets, validate these signature genes using TCGA database, and perform RT-qPCR to detect the relative mRNA expression levels of these genes in CRC. Ultimately, this study seeks to provide novel biomolecular markers for the early diagnosis of CRC.

[SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1007/s10238-025-02001-6.