Introduction: The increasing use of next-generation sequencing in breast cancer investigation has expanded the detection of variants of uncertain significance (VUS), representing a challenge in clinical practice. The reclassification of these variants is essential for accurate assessment of hereditary cancer risk and f...
J. F. Tavares, Paula Francinete Faustino da Silva, Bruno Eduardo Feitosa Nascimento et al.· Mastology· 0 citations
Introduction: Breast cancer is the most common malignancy among women, with 5–10% of cases arising from hereditary predisposition, driven by pathogenic variants in DNA repair genes such as BRCA1/BRCA2, as well as moderate-risk genes, including ATM, CHEK2, TP53, BARD1, and BRIP1. Next-generation sequencing improves vari...
Bruno Eduardo Feitosa Nascimento, I. M. Calassa, Luiz Henrique Alves Costa et al.· Mastology· 0 citations
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