Angela Mastronuzzi, Head of Neuro-Oncology Unit at Bambino Gesù Children’s Hospital and President of AIEOP, shared on LinkedIn:
“ ‘Monoallelic BRCA1/2 variants in pediatric, adolescent, and young adult patients with central nervous system tumors’ was just published with ESMO Open journal by ESMO.
Authors: S. Cipri, E. Agolini, G. D. Baldo, A. Cacchione, G. Megaro, S. Rossi, S. Barresi, A. Carai, G. S. Colafati, L. Boccuto, A. Mastronuzzi
Read the full article.
Alterations in the BRCA1 DNA repair associated (BRCA1) and BRCA2 DNA repair associated (BRCA2), two key DNA repair genes, are strongly linked to adult-onset malignancies and play a significant role in tumor development. They are firmly recognized as hereditary cancer risk genes in adult populations, but their role in CNS tumor susceptibility in younger patients is still debated.
We analyzed 367 pediatric, adolescent, and young adult (AYA) patients with primary CNS tumors. Tumors were classified according to the WHO Classification of Tumors of the CNS, fifth edition. All patients underwent clinical exome sequencing, including BRCA1 and BRCA2.
Highlights:
- Germline BRCA1/2 variants in 4.6% of pediatric and AYA CNS tumors and PV/LPV in 1.4%.
- BRCA2 was the most frequently represented gene among identified variants.
- Findings suggest a low-penetrance susceptibility role rather than primary oncogenic drivers.
- Testing is recommended in gliomas or medulloblastomas, suggestive family history, or early onset.
- Clinical impact on genetic counseling, cascade testing, and long-term surveillance planning.
Special thank you to Fondazione Il Coraggio Dei Bambini for their financial support.”
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