The Septin9 assay (Epi proColon®) is based on detecting aberrantly methylated DNA of the v2 region of the Septin9 gene (SEPT9) in blood plasma. Cytosine residues in the v2 region of the Septin9 gene are specifically methylated in colorectal cancer tissue but not in normal colon mucosa1.
This tumor-specific methylation pattern can be used to detect specifically cell-free DNA shed into the blood stream by tumor cells. Detection of colorectal cancer-derived DNA in blood plasma using the Septin9 methylation biomarker has been demonstrated in multiple case control studies with CRC patients and colonoscopy-verified negative controls to be a reliable indicator of the presence of colorectal cancer2-4.
The gene SEPT9 codes for the Septin9 protein, a member of a conserved family of GTP-binding proteins. Septins are multifunctional proteins, involved in vesicle trafficking, apoptosis, cytoskeletal remodelling, infection, neurodegeneration, neoplasia (i. e. cancer), among other important cellular processes.
More information about our Septin9 biomarker assay Epi proColon® can be found here.
- Model, F., et al. Identification and validation of colorectal neoplasia-specific methylation markers for accurate classification of disease. Mol Cancer Res 5, 153–163 (2007)
- Lofton-Day, C. et al. DNA methylation biomarkers for blood-based colorectal cancer screening. Clinical Chemistry 54:2, 414–423 (2008)
- Gruetzmann, R. et al. Sensitive Detection of Colorectal Cancer in Peripheral Blood by Septin 9 DNA Methylation Assay. PLoS ONE, Volume 3, Issue 11, e3759 (2008)
- De Vos, T. et al. Circulating methylated SEPT9 DNA in Plasma is a Biomarker for Colorectal Cancer, Clinical Chemistry, 55:7, 1337–1346 (2009)