Multitarget Stool DNA Testing for Colorectal-Cancer Screening

Abstract

In asymptomatic persons at average risk for colorectal cancer, multitarget stool DNA testing detected significantly more cancers than did FIT but had more false positive results. (Funded by Exact Sciences; ClinicalTrials.gov number, NCT01397747.).

Gut microbiome development along the colorectal adenoma–carcinoma sequence

“…Thus, MLGs selected by the carcinoma classifier captured important features of the deteriorating gut microbiome in adenoma and carcinoma and have great potential for early and non-invasive diagnosis of these tumours. We directly investigated the utility of the gut MLGs for identifying adenoma, which is more difficult to screen than colorectal carcinoma but important for early intervention 3,23 . After five repeats of 10-fold cross-validation, the random forest model chose 10 MLGs that allowed optimal classification of the training set (55 controls and 42 advanced adenoma; Fig.…”

Targeted Proteomics for Multiplexed Verification of Markers of Colorectal Tumorigenesis

“…The past decade has witnessed the discovery of a number of potential biomarkers for the diagnosis of colorectal neoplasms (6,66,67), but the only non-invasive screening methods for CRC approved thus far involve immunoassays for fecal hemoglobin (68). Studies are underway to assess the efficacy of a more recently developed multi-target stool DNA test, which combines hemoglobin detection with quantitative molecular assays for KRAS mutation, ␤-actin, and aberrant NDRG4 and BMP3 methylation (68). In a large cross-sectional validation study on asymptomatic individuals at average risk for CRC, this new approach detected significantly more cancers than the fecal immuno test, but it also yielded more false-positive results.…”

The conundrum of the young colon cancer patient

“…With this in mind, the younger population may be an adequate target to test and validate novel cost-effective low-threshold mass screening modalities, the most important of which may be the fecal immunochemical tests (FIT) 26 and, provided it eventually becomes considerably more affordable, multi-target stool DNA testing. 27 Another rapid and noninvasive possibility would be to use CT colonography as a screening method, but this raises the issue of radiation exposure, which potentially has more consequences in younger patients. 28 With the predominance of distal tumors witnessed in younger patients, and considering the higher rates of metastasis and mortality in sigmoid tumors previously demonstrated, 29 there may be a role for recommending sigmoidoscopy in this age group which would clearly be significantly less costly than recommending a full colonoscopy.…”