 Hi, my name is Minto González and I have the pleasure to introduce you to our work recently published in Human Mutation. In this work, we show that a reduction in the functional mismatch repair efficiency could be used to detect partial mismatch repair gene expression. Motivated by the cancer predisposition inherited through one defective allele Lynch syndrome, as well as the challenges in the current diagnostic methods, we've asked, could the heterozygosity be used to functionally detect Lynch syndrome mutation carriers prior to tumor formation and without mutational data? This is essentially where we would like to see the field develop in terms of further improving Lynch syndrome diagnosis and cancer surveillance through tumor independent early identification of Lynch syndrome mutation carriers. In this work, our aim was to study how the functional deficiency caused by reduced, but not completely lost, MMR gene mRNA expression could be detected. To achieve this, we created stable mismatch repair gene knockdown FibroBass cell lines, characterized them by TACMAN-based real-time PCR, and selected FibroBass cells expressing approximately 50% of MLH1, MSH2 or MSH6. So, levels representing Lynch syndrome mutation carriers, as well as cells with approximately 25 and 75% of the target gene expression left. We then assessed the mismatch repair efficiency of these cells by using the in vitro mismatch repair assay. And in fact, compared to an SHRNA control, a 50% reduction in MLH1, MSH2 and MSH6 could be detected by a reduction in the functional mismatch repair efficiency. And this reduction was found to be statistically significant in MSH2 and MSH6 knockdown FibroBass. So, with these findings presented in our work, we provide preliminary indication of the relative expression levels required for wealth of function, and suggest that the in vitro mismatch repair assay could be used to detect Lynch syndrome mutation carrier like a mismatch repair gene expression levels. For more detailed findings, as well as more extensive background information and methods used, please read the article assessing how reduced expression levels in the mismatch repair genes MLH1, MSH2 and MSH6 affect repair efficiency. Happy reading.