In parameterizing BOADICEA based on the estimated penetrance and population frequencies of PVs in previous studies, the developers of the model assumed the sensitivity of PV detection to be reduced in these studies due to unclassified missense PVs in BRCA1 and BRCA2 and the lack of CNV analysis for the remaining genes, for which the model only includes protein-truncating PVs8. Here, BRCA2 is linked to acquired polycythemia vera.