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Assessing the pathogenicity of BRCA1/2 variants of unknown significance: Relevance and challenges for breast cancer precision medicine

INTRODUCTION: Breast cancer (BC) is the leading cause of cancer-related death in women worldwide. Pathogenic variants in BRCA1 and BRCA2 genes account for approximately 50% of all hereditary BC, with 60-80% of patients characterized by Triple Negative Breast Cancer (TNBC) at an early stage phenotype...

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Detalles Bibliográficos
Autores principales: De Paolis, Elisa, Paris, Ida, Tilocca, Bruno, Roncada, Paola, Foca, Laura, Tiberi, Giordana, D’Angelo, Tatiana, Pavese, Francesco, Muratore, Margherita, Carbognin, Luisa, Garganese, Giorgia, Masetti, Riccardo, Di Leone, Alba, Fabi, Alessandra, Scambia, Giovanni, Urbani, Andrea, Generali, Daniele, Minucci, Angelo, Santonocito, Concetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9891372/
https://www.ncbi.nlm.nih.gov/pubmed/36741700
http://dx.doi.org/10.3389/fonc.2022.1053035