Angela Mastronuzzi, Associate Professor of General and Specialist Pediatrics at Catholic University of the Sacred Heart, shared on LinkedIn:
“Published with Neuro-Oncology Pediatrics OUP Academic:
՛Prevalence of MutY DNA Glycosylase germline variants in pediatric and adolescent/young adult patients with a brain tumor․՛
This study describes the prevalence and spectrum of germline MutY DNA Glycosylase (MUTYH) variants in a large cohort of pediatric and adolescent/young adult patients with central nervous system (CNS) tumors.
Pathogenic or likely pathogenic variants were identified in 2.9% of cases, predominantly as monoallelic alterations. A positive family history of cancer was present in 60% of cases.
These findings expand current knowledge on DNA repair-related susceptibility in pediatric neuro-oncology and support the inclusion of MUTYH in multigene germline testing panels for CNS tumors.
A special thanks to The Courage of Children Foundation (Fondazione Il Coraggio Dei Bambini)․”
Title: Prevalence of MutY DNA Glycosylase germline variants in pediatric and adolescent/young adult patients with a brain tumor
Authors: Selene Cipri, Antonella Cacchione, Giada Del Baldo, Emanuele Agolini, Rossana Pavone, Iside Alessi, Marta Matraxia, Sabrina Rossi, Isabella Giovannoni, Andrea Carai, Giovanna Stefania Colafati, Luigi Boccuto, Franco Locatelli, Angela Mastronuzzi
You can also read: Re-Irradiation in Pediatric CNS Tumors: Balancing a Second Chance of Cure Against Long-Term Toxicity.
