Detection of Colorectal Cancer Using a Simplified SEPT9 Gene Methylation Assay Is a Reliable Method for Opportunistic Screening

Abstract

SEPT9 gene methylation was validated as a biomarker for colorectal cancer (CRC) for >10 years and available as the Epi proColon test as an aid in CRC detection for >6 years. It was proven to be an accurate, reliable, fast, and convenient molecular test. In this opportunistic screening study, we validated a further simplified SEPT9 gene methylation assay in 1031 subjects in Chinese hospitals. The sensitivity for CRC detection was 76.6% at a specificity of 95.9%, and the results showed a satisfactory detection rate for each CRC stage, including early stages. The new SEPT9 assay, with enhanced technical simplicity, convenience, and lower cost, did not differ in performance compared with Epi proColon 2.0, the commercialized SEPT9 assay. The CRC detection sensitivity was further enhanced when the assay was combined with carcinoembryonic antigen (sensitivity, 86.4%) or fecal immunochemical test (sensitivity, 94.4%), suggesting that the combined tests may be an effective option for future opportunistic screening. In brief, our study has validated a new SEPT9 assay and combined testing as an aid in cancer detection, providing a new approach for opportunistic CRC screening.

A novel DNA methylation panel accurately detects colorectal cancer independently of molecular pathway

“…Regarding the use of gene promoter methylation as CRC biomarker, the best detection performance was disclosed by SEPT9 promoter methylation, followed by MGMT. Remarkably, SEPT9 validity estimates were similar to those of the trademark assays using SEPT9 methylation [12,35], further confirming its biomarker potential. Nonetheless, MGMT displayed better performance (77.2% sensitivity, 84.0% specificity) than previously reported (46-53% sensitivity, 74-100% specificity), especially concerning sensitivity [23,36].…”

Current noninvasive tests for colorectal cancer screening: An overview of colorectal cancer screening tests

“…We recently tested this assumption in an opportunistic screening setting, in which blood and stool samples were collected from outpatients and inpatients coming to the GI departments of three Chinese hospitals[55]. Table 6 shows the test results from the screening.…”

Screening for Colorectal Cancer Based on the Promoter Methylation Status of the Septin 9 Gene in Plasma Cell Free DNA

“…Test performance (Table 1) was evaluated in a number of case control studies in Europe and China [27,[31][32][33][34]. As outlined in these studies, test sensitivity was reported to range from 73-81% and test specificity was reported to range from 96-99%.…”

“…As outlined in these studies, test sensitivity was reported to range from 73-81% and test specificity was reported to range from 96-99%. A modified version of this test was developed in China, and tested in an opportunistic screening setting [34].…”