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

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

IntroductionBreast 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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Main Authors: Elisa De Paolis, Ida Paris, Bruno Tilocca, Paola Roncada, Laura Foca, Giordana Tiberi, Tatiana D’Angelo, Francesco Pavese, Margherita Muratore, Luisa Carbognin, Giorgia Garganese, Riccardo Masetti, Alba Di Leone, Alessandra Fabi, Giovanni Scambia, Andrea Urbani, Daniele Generali, Angelo Minucci, Concetta Santonocito
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Oncology
Subjects:
breast cancer
triple negative early-stage breast cancer
BRCA1/2
variants of unknown significance
precision medicine
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2022.1053035/full

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https://www.frontiersin.org/articles/10.3389/fonc.2022.1053035/full

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