Yaping Cao1,2, Guodong Zhao3,4,5, Mufa Yuan1,2, Xiaoyu Liu3, Yong Ma3,6, Yang Cao1,2, Bei Miao1,2, Shuyan Zhao2, Danning Li2, Shangmin Xiong3,5, Minxue Zheng3,6, Sujuan Fei1,2. 1. Department of Gastroenterology, Affiliated Hospital of Xuzhou Medical University, Xuzhou, China. 2. Institute of Digestive Diseases, Xuzhou Medical University, Xuzhou, China. 3. Zhejiang University Kunshan Biotechnology Laboratory, Zhejiang University Kunshan Innovation Institute, Kunshan, China. 4. State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing, China. 5. Department of R&D, Suzhou VersaBio Technologies Co. Ltd., Kunshan, China. 6. Suzhou Institute of Biomedical Engineering and Technology, Chinese Academy of Sciences, Suzhou, China.
Abstract
BACKGROUND: Aberrant DNA methylation has emerged as a class of promising biomarkers for early colorectal cancer (CRC) detection, but the performance of methylated C9orf50 and methylated KCNQ5 in stool DNA has never been evaluated. METHODS: Methylation specific quantitative PCR (qPCR) assays for methylated C9orf50 and methylated KCNQ5 were developed. The methylation levels of C9orf50 and KCNQ5 in 198 CRC patients, 20 advanced adenoma (AA) patients, 101 small polyp (SP) patients, and 141 no evidence of disease (NED) subjects were analyzed. RESULTS: The methylation levels of both KCNQ5 and C9orf50 genes were significantly higher in CRC and AA groups than those in SP and NED groups, but showed no significant difference among different stages of CRC. The sensitivities of methylated KCNQ5 and methylated C9orf50 for CRC detection were 77.3% (95% CI: 70.7-82.8%) and 85.9% (95% CI: 80.0-90.2%) with specificities of 91.5% (95% CI: 85.3-95.3%) and 95.0% (95% CI: 89.7-97.8%), respectively. When C9orf50 and methylated KCNQ5 were combined, the clinical performance for CRC detection was similar to that of methylated C9orf50 alone. CONCLUSIONS: Stool DNA based methylated C9orf50 test has the potential to become an alternative approach for CRC screening and prevention.
BACKGROUND: Aberrant DNA methylation has emerged as a class of promising biomarkers for early colorectal cancer (CRC) detection, but the performance of methylated C9orf50 and methylated KCNQ5 in stool DNA has never been evaluated. METHODS: Methylation specific quantitative PCR (qPCR) assays for methylated C9orf50 and methylated KCNQ5 were developed. The methylation levels of C9orf50 and KCNQ5 in 198 CRC patients, 20 advanced adenoma (AA) patients, 101 small polyp (SP) patients, and 141 no evidence of disease (NED) subjects were analyzed. RESULTS: The methylation levels of both KCNQ5 and C9orf50 genes were significantly higher in CRC and AA groups than those in SP and NED groups, but showed no significant difference among different stages of CRC. The sensitivities of methylated KCNQ5 and methylated C9orf50 for CRC detection were 77.3% (95% CI: 70.7-82.8%) and 85.9% (95% CI: 80.0-90.2%) with specificities of 91.5% (95% CI: 85.3-95.3%) and 95.0% (95% CI: 89.7-97.8%), respectively. When C9orf50 and methylated KCNQ5 were combined, the clinical performance for CRC detection was similar to that of methylated C9orf50 alone. CONCLUSIONS: Stool DNA based methylated C9orf50 test has the potential to become an alternative approach for CRC screening and prevention.
Authors: Christoph Ausch; Young-Ho Kim; Karen D Tsuchiya; Slavomir Dzieciatkowski; Mary K Washington; Christos Paraskeva; Jerry Radich; William M Grady Journal: Clin Chem Date: 2009-06-18 Impact factor: 8.327
Authors: Nilton J Santos; Ana Carolina Lima Camargo; Hernandes F Carvalho; Luis Antonio Justulin; Sérgio Luis Felisbino Journal: Int J Mol Sci Date: 2022-08-17 Impact factor: 6.208