A large Italian study, the most recent of several from the consortium, tested 767 BRCA1/2-negative MBCs and 1349 male controls for an extended panel of 50 genes.5 Although their headline rate was 4.8% (n=37), this dropped to only 18 (2.3%) if only definitive breast cancer genes3 4 were included (2 PVs were also found in NF1 which is also associated outside case control studies but is not usually in breast cancer gene panels). Here, BRCA1 is linked to breast cancer.