BRCA1 and breast cancer: From a germline standpoint, we detected two pathogenic variants (one affecting BRCA1 and one affecting BRCA2, 2/99, 2%), which were clinically confirmed; in addition, 14 variants with uncertain significance (VUS) in 10 BC susceptibility genes were observed, the most interesting being a TP53 missense mutation, reported as likely pathogenic for a breast neoplasm-associated syndrome (Additional file 5: Table S3).