Pioneering research for non-invasive detection of cancer

Although cancer is a leading cause of death worldwide, there are still no clinically approved tests for broader cancer screening of the population. The earlier tumors are detected, the sooner cancer can be prevented or the chances of cure increased.

By combining DNA mutations with epigenetic alterations such as DNA methylation and miRNAs, the scientists developed a classification model that could distinguish between healthy subjects and patients with solid tumors with 95.4% accuracy, 97.9% sensitivity, and 80% specificity.

Usually, most researchers focus on one biomarker, and one cancer type at a time. For this study, plasma samples of healthy subjects and individuals with one of nine different tumor types were analyzed for genetics and epigenetics alterations (lung, pancreas, colorectal cancer, prostate, ovarian, breast, stomach, bladder, and brain cancer). The combination of three different analytes showed the best accuracy and sensitivity and was superior to the biopsy models based solely on mutations, cfDNA methylation, or miRNAs.

To fully validate the clinical utility of this test and further assess whether the tissue of origin could be identified, the researchers plan to carry out a bigger prospective cohort. Their ultimate goal is to develop an accurate, simple and minimally invasive pan-cancer screening test which could be routinely performed at annual check-ups, thereby increasing early tumor detection, especially in high-risk populations.

Original paper: https://doi.org/10.3390/cancers14020462

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