Fátima Marín, Júlia Canet-Hermida, Vanessa Bianchi, Jiil Chung, Katharina Wimmer, William Foulkes, Vanesa Pérez-Alonso, Nerea Domínguez-Pinilla, Constantino Sábado, Felisa Vázquez-Gómez, Antonio Molinés, Victoria Fioravantti, Estela Carrasco, Lucie Stengs, Melissa Edwards, Logine Negm, Anirban Das, Melyssa Aronson, Ángela Pastor, Daniel Rueda, Luis Ignacio González-Granado, Uri Tabori, Gabriel Capellá, Marta Pineda
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare and extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic diagnosis is often hampered by the identification of mismatch repair (MMR) variants of unknown significance and difficulties in PMS2 analysis, the most frequently mutated gene in CMMRD. We present the validation of a robust functional tool for CMMRD diagnosis and the characterization of microsatellite instability (MSI) patterns in blood and tumors...
March 26, 2024: Clinical Chemistry