Is methylation analysis of SFRP2 , TFPI2 , NDRG4 , and BMP3 promoters suitable for colorectal cancer screening in the Korean population?

• Published in: Intestinal Research Vol. 15; no. 4; pp. 495 - 501
• Main Authors: Park, Soo-Kyung, Baek, Hae Lim, Yu, Junghee, Kim, Ji Yeon, Yang, Hyo-Joon, Jung, Yoon Suk, Choi, Kyu Yong, Kim, Hungdai, Kim, Hyung Ook, Jeong, Kyung Uk, Chun, Ho-Kyung, Kim, Kyungeun, Park, Dong Il
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Association for the Study of Intestinal Diseases 01.10.2017; 대한장연구학회
• Subjects: Adenoma; Colorectal neoplasms; DNA; Feces; Original; 내과학; Adenoma; Colorectal neoplasms; Feces; DNA
• ISSN: 1598-9100; 2288-1956
• DOI: 10.5217/ir.2017.15.4.495

Colorectal cancer (CRC) screening using stool DNA was recently found to yield good detection rates. A multi-target stool DNA test (Cologuard®, Exact Sciences), including methylated genes has been recently approved by the U.S. Food and Drug Administration. The aim of this study was to validate these aberrantly methylated genes as stool-based DNA markers for detecting CRC and colorectal advanced adenoma (AA) in the Korean population. A single-center study was conducted in 36 patients with AA; 35 patients with CRC; and 40 endoscopically diagnosed healthy controls using CRC screening colonoscopy. The methylation status of the , , , and promoters was investigated blindly using bisulfate-modified stool DNA obtained from 111 participants. Methylation status was investigated by methylation-specific polymerase chain reaction. Methylated , , , and promoters were detected in 60.0%, 31.4%, 68.8%, and 40.0% of CRC samples and in 27.8%, 27.8%, 27.8%, and 33.3% of AA samples, respectively. The sensitivities obtained using 4 markers to detect CRC and AA were 94.3% and 72.2%, respectively. The specificity was 55.0%. Our results demonstrate that the , , , and promoter methylation analysis of stool sample DNA showed high sensitivity but low specificity for detecting CRC and AA. Because of the low specificity, 4 methylated markers might not be sufficient for CRC screening in the Korean population. Further large-scale studies are required to validate the methylation of these markers in the Asian population and to find new markers for the Asian population.