Aim: The first aim was to determine whether hypermethylation of certain tumor related genes, including 3OST2, CHFR, RUNX3, and p16, could be detected in Japanese colorectal cancer (CRC) patients. The second was to utilize the most frequently hypermethylated genes as biomarkers for early detection of CRC.
Materials and methods: We investigated the aberrant promoter methylation profile of 4 genes in 129 colorectal tumors and corresponding normal mucosa. For the second step, bowel lavage and blood of the main tumor drainage vein from 21 CRC patients were analyzed.
Results: The 3OST2 gene was the most frequently methylated (57%) and was methylated frequently (9/21, 43%) in bowel lavage but rarely (1/21; 4.7%) in the venous drainage. The concordance between 3OST2 methylation in bowel lavage and corresponding tumor samples was 71.4%.
Conclusion: These results may show the possibility of early detection for CRC by examining 3OST2 gene methylation status in DNA extracted from stool.