Bioinformatics Analysis of Gene Expression in Lynch Syndrome Progression
Overview
Lynch Syndrome is an inherited condition that primarily increases the risk of developing colorectal and endometrial cancers. It arises from germline mutations in DNA mismatch repair genes, resulting in microsatellite instability and the accumulation of genetic mutations. Individuals with Lynch Syndrome are prone to developing tumors at a young age, yet the gene expression changes that drive the progression from precancerous lesions to early-stage malignancy are not completely understood. To investigate this, gene expression data from GEO dataset GSE224707 was analyzed using GEO2R, with samples grouped into precancerous, advanced precancerous, and early-stage cancer categories. This analysis identified 296 differentially expressed genes (DEGs) based on log2 fold change thresholds. Of these, 138 genes were upregulated and 158 were downregulated (Figure 2a). Enrichment analysis using SRPlot identified several significant Gene Ontology terms, including collagen fibril organization, immunoglobulin complex, transaminase activity, protein binding, and growth factor binding. KEGG pathway analysis revealed enrichment in the Hedgehog signaling pathway. Genes such as ZG16, KIF26B, CA1, CD177, and CXCL14 were commonly differentially expressed and associated with mucosal immunity, cellular migration, metabolic regulation, and immune surveillance. These reflect early structural and immunological shifts in colorectal tissue during Lynch Syndrome progression. This study highlights molecular changes that may serve as early biomarkers or therapeutic targets for Lynch Syndrome–associated colorectal cancer. The findings support future development of gene-targeted therapies aimed at delaying or preventing malignant transformation in high-risk patients.
Competition history
- AJAS 2026
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Source: AAAS Annual Meeting (Confex) / American Junior Academy of Science