Characterizing early events driving carcinogenesis in Constitutional Mismatch Repair Deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention

ABOUT THE PROJECT

Constitutional mismatch repair deficiency (CMMRD) is a rare childhood-onset cancer predisposition syndrome caused by biallelic mutations in mismatch repair genes. The spectrum of CMMRD tumours is broad, being high-grade gliomas one of the most frequently diagnosed tumours.
In this project we aim to improve the identification of CMMRD syndrome patients in our country and to characterize the early molecular events in CMMRD carcinogenesis by generating an in vitro/in vivo iPSC-based CMMRD model.