National collaborative strategy to improve the identification and clinical management of Constitutional Mismatch Repair Deficiency (CMMRD) syndrome

ABOUT THE PROJECT

CMMRD is a rare pediatric-onset cancer syndrome caused by biallelic mutations in the MMR genes. The severity of CMMRD is evident in the fact that many patients do not survive to adulthood. New tools are needed to improve diagnosis and therapeutic management in these patients. The main objective of this project is to improve the identification and clinical management of CMMRD by:

Evaluating the clinical utility of MSI quantification in liquid biopsy as a non-invasive tool for early cancer detection and treatment response monitoring.