BRCA1 and breast carcinoma: Putative deletions overlapping TERT and duplications overlapping LSP1, two loci previously shown to be associated with breast cancer risk for BRCA1 (TERT locus) and BRCA2 (TERT and LSP1 loci) pathogenic variant carriers from SNP-based studies18,19, suggested increased risk (HR = 1.92, 95%CI = 1.06–3.46, p = 6.0 × 10−3) and decreased risk (HR = 0.13, 95%CI = 0.04–0.45, p = 3.3 × 10−3) breast cancer risk for BRCA2 pathogenic variant carriers in this study, respectively.