title: Plasma methylated septin 9: a colorectal cancer screening marker.
abstract: Colorectal cancer (CRC) is a slow-developing cancer (10-15 years) with one of the highest frequencies in the world's population. Many countries have implemented various CRC screening programs, but have not achieved the desired compliance. Colonoscopy - considered the gold standard for CRC screening - has its limitations as well as the other techniques used, such as irrigoscopy, sigmoidoscopy, fecal blood and hemoglobin tests. The biomarker septin 9 has been found to be hypermethylated in nearly 100% of tissue neoplasia specimens and detected in circulating DNA fractions of CRC patients. A commercially available assay for septin 9 has been developed with moderate sensitivity (∼70%) and specificity (∼90%) and a second generation assay, Epi proColon 2.0 (Epigenomics AG), shows increased sensitivity (∼92%). The performance of the assay proved to be independent of tumor site and reaches a high sensitivity of 77%, even in early cancer stages (I and II). Furthermore, septin 9 was recently used in follow-up studies for detection of early recurrence of CRC. This article evaluates the opportunities, known limitations and future perspectives of the recently introduced Epi proColon(®) 2.0 test, which is based on the detection of aberrantly methylated DNA of the v2 region of the septin 9 gene in plasma.
authors.affiliation: Molecular Medicine Research Unit, Hungarian Academy of Sciences, Budapest, Hungary.
authors.forename: Béla
authors.initials: B
authors.lastname: Molnár
authors.forename: Kinga
authors.initials: K
authors.lastname: Tóth
authors.forename: Barbara Kinga
authors.initials: BK
authors.lastname: Barták
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Tulassay
mesh_terms: D014408:Biomarkers, Tumor / Q000097:blood* / Q000235:genetics; D015179:Colorectal Neoplasms / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D019175:DNA Methylation; D055088:Early Detection of Cancer; D044127:Epigenesis, Genetic; D006801:Humans; D025202:Molecular Diagnostic Techniques; D058112:Septins / Q000097:blood* / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; C474315:SEPTIN9 protein, human; D058112:Septins
keywords: colorectal cancer; epigenetics; methylation; peripheral blood; screening; septin 9