Early cancer detection has the potential to significantly improve treatment outcomes and survival rates. Our study investigates the roles of 5‑methylcytosine (5mC) and 5‑hydroxymethylcytosine (5hmC) as biomarkers for early-stage colorectal cancer (CRC) detection in cell-free DNA (cfDNA).
What can you expect to learn from the paper? Here are featured highlights from the paper in the figures above:
- Figure 1C: represents a region undergoing hypomethylation in late-stage disease. Changes in 5hmC are proportionally larger at the early stage than changes in 5mC or modC. At later stages, as demethylation completes, 5mC and modC become proportionally larger. Changes in modC are masked by the conflation of 5mC and 5hmC and only become distinguishable at mid-to late-stage.
- Figure 2A: volcano plot for DMRs between stage IV CRC tissue and adjacent matched normal, using data from TCGA.
- Figure 2B: Venn diagram of regions with statistically significant (q < 0.05) differences in 5mC and 5hmC in stage I plasma.
- Figure 2D: trace plots of 5hmC (left) and 5mC (right) fractions in an example region that showed increased 5hmC in stage I plasma and decreased 5mC in stage IV plasma.
Together, the 5mC and 5hmC model shows an 85% sensitivity (at 95% specificity) for early-stage cancer detection. This groundbreaking data is a paradigm shift for liquid biopsy and cancer research.
