Abstract

Abstract A colorectal adenoma, an aberrantly growing tissue that arises from the intestinal epithelium is considered a precursor of colorectal cancer, the third most common cancer worldwide. In the presented study, we performed a whole transcriptome analysis of 18 fresh frozen colorectal adenomas and their adjacent mucosa from the Czech and Italian populations. Samples were matched for histology and sex. The libraries were sequenced through NovaSeq6000 with a paired-end approach (2 × 150 bp) and with 100 million reads per sample. The enrichment analysis showed that the most downregulated pathways belonged to immune responses and complement activation while the most upregulated pathways were enriched predominantly in proliferation and development-related Gene Ontology biological processes. In total 2,753 differentially expressed genes (DEGs) coherent between these two populations were identified. To determinate, the subset of discriminant DEGs for colorectal adenomas, the output of seven feature selection methods was combined highlighting a total of 321 DEGs scored at the top 95% of at least one method. Further from this set, 8 candidate genes AXIN2, ETV4, RNF43, CXCL12, FBLN1, GNG7, ZEB2, and SFRP1 were selected for validation on a larger population as well as for functional in vitro assays. The results will be presented at the annual meeting. We believe that the study could provide new candidate biomarkers for precancerous colorectal cancer stages. Acknowledgement: This study was financed by NV18-03-00199. Citation Format: Anna Siskova, Veronika Vymetalkova, Pavel Vodicka, Giulio Ferrero, Alessio Naccarati, Chuanpit Hampel, Regine Schneider-Stock. Biomarkers of precancerous colorectal cancer stages identified by transcriptome profiling [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 3368.

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