Angela Mastronuzzi: The coexistence of BRCA2 and DICER1 in two first-degree cousins suggests their potential synergic effect

Angela Mastronuzzi shared on LinkedIn:

“Just published with Nature Portfolio – ‘The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect’.

We reported for the first time the occurrence of two neoplasms typical of DICER-tumor predisposition syndrome in two patients carrying the same germline BRCA2 variant and a somatic DICER1 mutation. These findings suggest a potential cooperative tumorigenic role of DICER1 and BRCA2, both implicated in DNA repair pathways.

This study demonstrates the importance of studying BRCA variants in the pediatric cancer patient population for the potential screening, risk-reduction interventions, and family planning options currently available for relatives of children carrying BRCA mutations.
Extending the analysis of these genes to the pediatric population could provide relevant insights correlated to a possible predisposition to cancer.

Special thank you to ‘Il Coraggio dei Bambini’ Foundation for the funding and never-ending support.”

The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect | Nature Portfolio

Authors: Giada Del Baldo, Angela Mastronuzzi, Selene Cipri, Emanuele Agolini, Marta Matraxia, Antonio Novelli, Antonella Cacchione, Annalisa Serra, Andrea Carai, Luigi Boccuto, Giovanna Stefania Colafati, Pier Luigi Di Paolo, Evelina Miele, Sabina Barresi, Rita Alaggio, Sabrina Rossi and Isabella Giovannoni 

Source: Angela Mastronuzzi/LinkedIn

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Angela Mastronuzzi is pediatric hematologist-oncologist and the Head of Neuro-Oncology Unit at Bambino Gesù Children’s Hospital (Italy). She is also a professor at the UniCamillus International Medical University, and a Board Member of AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica). Her main fields of interest are CNS tumors and innovative therapies.