Figure 3

Predictive power of detecting PV/LPV carriers (performance) in (A) BRCA1 only, (B) BRCA2 only, (C) BRCA1 and BRCA2, or (D) BRCA1, BRCA2 and TP53, in two subgroups: FH(−) = patients with no familial history of cancer (n = 90); FH(+) = patients with familial history of cancer (n = 167). Performance was estimated through Receiver Operating Characteristic (ROC) curves for BOADICEA and Penn II risk prediction models, as well as for the familial history data (number of relatives with cancer). FH(−) positive or FH(+) positive refer to the percentage of PV/LPV cases in each subgroup. Relatives w/cancer refers to the number of relatives with cancer. Relatives w/HBOC refers to the number of relatives with HBOC core cancer, which was defined, for convenience, as breast, ovarian, pancreatic, and prostate cancer. The corresponding area under the ROC curve (AUC) and p-value are presented, as well as the optimal cutoff point (marked by a dot) estimated through the Youden index.