Highly sensitive, non-invasive detection of colorectal cancer mutations using single molecule, third generation sequencing.

摘要: Colorectal cancer (CRC) represents one of the most prevalent and lethal malignant neoplasms every individual age 50 above should undergo regular CRC screening. Currently, effective preventive screening procedure to detect adenomatous polyps, precursors CRC, is colonoscopy. Since colorectal starts as a polyp, detecting all polyps removing them crucial. By exactly doing that, colonoscopy reduces incidence by 80%, however it an invasive that might have unpleasant and, in rare occasions, dangerous side effects. Despite numerous efforts over past two decades, non-invasive method for general population with detection rates adenomas similar has not yet been established. Recent advances next generation sequencing technologies be successfully applied this problem, because mutations hindered systematic biases due context base calling quality NGS. We present first study applies high read accuracy depth single molecule, real time, circular consensus (SMRT-CCS) stool DNA order provide non-invasive, sensitive accurate test CRC. In isolated from patients diagnosed adenocarcinoma, we are able at frequencies below 0.5% no false positives. This approach establishes foundation highly assay screen early stage lead