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Article

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

Scientific reports - 13 Sept 2024

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

Abstract excerpt

Cancer predisposition syndromes are recognized in about 10% of pediatric malignancies with several genes specifically involved in a subset of pediatric tumors such as DICER1, in pleuropulmonary blastoma, cystic nephroma, and brain sarcomas. By contrast, the role of BRCA1/2 in pediatric cancer predisposition is still under investigation. We present two cases of young first-degree cousins, both carrying a germline...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39271738
DOI: 10.1038/s41598-024-71667-x
PMCID: PMC11399136

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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