Objective: To explore the role of detecting the methylation status of gene Septin9 (SEPT9) in plasma for colorectal cancer screening in Chinese population.
Methods: Patients were collected from Beijing Military General Hospital since September 2013 to February 2014. The performance of SEPT9 assay was validated in a single-blind study of 80 cases with colonoscopy and pathologically verified colorectal cancer and 52 normal controls. The detection of Septin9 gene methylation in peripheral blood was performed by fluorescence quantitative polymerase chain reaction (PCR). And immunoassay fecal occult blood test was conducted to compare the superiority of methylated Septin9 for screening colorectal cancer.
Results: The Septin9 assay successfully identified 75.0% (95%CI:64.7%-83.6%) of cancers at a specificity of 98.1% (95%CI:90.9%-99.9%). And it was superior to fecal occult blood screening for colorectal cancer (sensitivity 79.5% vs 53.8%, P < 0.05).
Conclusion: Determination of SEPT9 methylation status is an innovative non-invasive plasma screening test for colorectal cancer.