DR-471 Whole Genome CRISPR Screening Identifies Novel Regulators of Mismatch Repair in Lynch-like Syndrome

This project aims to uncover novel genetic regulators of mismatch repair (MMR) that may explain the molecular basis of Lynch-like syndrome—cases where patients show features of Lynch syndrome but lack mutations in known MMR genes. Using a genome-wide CRISPR-Cas9 screen in a reporter cell model, we identified candidate genes whose loss disrupts MMR function. We now seek to analyze patient-derived genomic data from the Hartwig Medical Foundation to determine whether these genes are mutated or altered in colorectal cancer patients, thereby assessing their potential clinical relevance and contribution to MMR-deficient tumorigenesis.

Rodrigo Gomes Leite de Oliveira, Amsterdam UMC, the Netherlands