Key words: colorectal cancer, CRC screening, early detection, DNA methylation marker, sensitivity/specificity

"DNA methylation markers for early detection of colorectal cancer: moving forward"

Colorectal cancer (cancer of the colon and the rectum, CRC) is the second leading cause of cancer death in 2020. The prognosis of a patient is highly dependent on the stage of the disease. If found early, CRC is highly treatable. Currently, colonoscopy is the preferred modality for CRC screening and prevention, though its invasiveness and labor intensiveness place burdens on patients and hospitals. Fecal immunochemical test (FIT), a non-invasive method preselecting patients for colonoscopy, would help relieve the burden. However, its sensitivity is yet to be improved. Accumulating evidence supports DNA methylation markers for early detection of CRC. Through analysing the genome-wide expression and methylation profiles of samples from CRC and normal individuals, this research identified a three-gene marker panel that could improve the FIT performance.  So far, the markers have been patented and will be developed in collaboration with a commercial partner to translate them into clinically relevant tests.

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