%0 Journal Article
%T A Simple and Highly Specific MassARRAY-Based Stool DNA Assay to Prioritize Follow-up Decisions in Fecal Immunochemical Test-Positive Individuals
%A Chia-Chun Chen
%A Jang-Jih Lu
%A Jeng Fu You
%A Jinn-Shiun Chen
%A Jy-Ming Chiang
%A Mei-Chia Wang
%A Pi-Yueh Chang
%A Shih-Cheng Chang
%A Wen-Sy Tsai
%J Archive of "Cancers".
%D 2019
%R 10.3390/cancers11030423
%X Background: Seventy-five percent of fecal immunochemical test (FIT)-positive individuals are false positives and undergo unnecessary colonoscopies. Here, we established a stool DNA (sDNA) test that uses the Single Allele Base Extension Reaction (SABER) MassARRAY platform to improve the accuracy of FIT-based CRC detection. Methods: Twenty-one variants in five CRC-associated genes were selected for the sDNA panel. Cell line DNA and matched mutation-confirmed tissue and stool samples from 34 patients were used for accuracy assessment (cohort 1). The clinical performance of the sDNA assay was further evaluated in 101 independent FIT-positive stool samples (cohort 2). Results: In cohort 1, we obtained a 62% mutation concordance rate in paired tissue and stool samples of the CRC group, regardless of the FIT status. In cohort 2, 100% specificity in normal controls with positive FIT results was observed. By weighting the FIT value and the presence of a given variant type in stool and then summing the two scores, we found that a one-increment increase in the score was associated with a 4.538-fold risk (95% CI = 2.121¨C9.309) for malignancy in the FIT-positive setting. Conclusions: Our highly specific sDNA assay can help prioritize the most at-risk FIT-positive persons to receive prompt colonoscopic confirmation of CRC
%K colorectal cancer
%K stool DNA
%K MassARRAY
%K risk-stratifying algorithm
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468462/