The utility of liquid biopsy-based methylation biomarkers for colorectal cancer detection

Abstract

Colorectal cancer (CRC) is one of the most prevalent cancers and the second leading cause of cancer-related deaths in the United States. It is also one of the few cancers with established screening guidelines, however these methods have significant patient burden (e.g., time, invasive). In recent years, the development of liquid biopsy-based screening methods for biomarker detection have emerged as alternatives to traditional screening. Methylation biomarkers are of particular interest, and these markers can be identified and measured on circulating tumor and cell-free DNA. This perspective summarizes the current state of CRC screening and the potential integration of DNA methylation markers into liquid biopsy-based techniques. Finally, I discuss limitations to these methods and strategies for improvement. The continued development and implementation of liquid biopsy-based cancer screening approaches may provide an acceptable alternative to individuals unwilling to be screened by traditional methods.

Keywords: biomarkers; colorectal cancer; early detection; liquid biopsy; methylation; screening.

Figure 1

Colorectal cancer tumors shed cellular debris into circulation. Of interest for cancer detection, colorectal cancer cells release DNA fragments that contain methylation markers. As discussed in the perspective, methylation markers on these fragments may have substantial utility in minimally invasive cancer detection. (Created in Biorender).