Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling
Figure 4
Validation of the basal BRCA1 signature and lumB BRCA2 signature in independent datasets.
A) The basal BRCA1 signature was validated using basal-like tumor samples obtained from the NKI dataset and Jönsson dataset, respectively. The panels show the BRCA1 probability estimates of basal-like BRCA1 samples (red) and basal-like sporadic samples (grey). B) The lumB BRCA2 signature was validated using lumB tumor samples obtained from the Jönsson dataset. The panel shows the BRCA2 probability estimates of lumB BRCA2 samples (blue) and lumB sporadic samples (grey). Probability estimates were obtained by leave-one-out cross-validation. Dashed lines indicate the BRCA1/2 probability cutoff. Samples with probabilities ≥0.5 are classified as BRCA1/2, while samples with probabilities <0.5 are classified as sporadic tumors. Samples have been “jittered” in the vertical direction to spread them out for better visualization.