Systematic analysis of functional genetic and epigenetic variants in colorectal cancer - PubMed
2 months ago
- #biomarkers
- #epigenetics
- #colorectal cancer
- Systematic analysis of genetic and epigenetic variants in colorectal cancer (CRC) using SNP-STARR-seq and Methyl-STARR-seq.
- Identified 922 SNPs and 487 CpG-containing elements affecting enhancer activity in primary CRC cells.
- Found 3136 SNPs and 3008 methylation-sensitive elements with metastasis-specific regulatory effects.
- Multi-omics integration linked variants to target genes, validated by CRISPR editing.
- Discovered two CRC-specific hypermethylated loci (cg08640619 and cg25982657) as early detection biomarkers (AUC > 0.96).
- Hypermethylation at cg08640619 disrupts RUNX2 binding, inhibiting KIRREL1 and ETV3.
- Provides insights into CRC susceptibility and potential diagnostic/therapeutic targets.