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A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

BRCA1 and BRCA2 are the genes most frequently associated with hereditary breast and ovarian cancer (HBOC). They are crucial for the maintenance of genome stability, particularly in the homologous recombination-mediated repair pathway of DNA double-strand breaks (HR-DSBR). Widespread BRCA1/2 next-gen...

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Detalles Bibliográficos
Autores principales: Esposito, Maria Valeria, Minopoli, Giuseppina, Esposito, Luciana, D’Argenio, Valeria, Di Maggio, Federica, Sasso, Emanuele, D’Aiuto, Massimiliano, Zambrano, Nicola, Salvatore, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826418/
https://www.ncbi.nlm.nih.gov/pubmed/31569370
http://dx.doi.org/10.3390/cancers11101454