Version 2.0-8 of BRCAPRO discriminates BRCA1/BRCA2 carriers from non-carriers with similar accuracy compared to the previous version (increase in AUC: 0.0043), is slightly more precise in terms of RMSE (decrease in RMSE: 0.0108), and it significantly improves calibration (ratio of observed to expected events of 0.9765 in version 2.0-8, compared to 0.8910 in version 2.0-7). ![]() We then validated the resulting updated model of CBC in BRCAPRO by comparing it with the previous release (BayesMendel 2.0-7), using pedigrees from the Cancer Genetics Network (CGN) Model Validation Study. ![]() We estimated penetrance functions for contralateral breast cancer by a combination of parametric survival modeling of literature data and deconvolution of SEER9 data. The recent release of version 2.0-8 of the BayesMendel package contains an updated BRCAPRO risk prediction model, which includes revised modeling of Contralateral Breast Cancer (CBC) penetrance, provisions for pedigrees of mixed ethnicity and an adjustment for mastectomies among family members.
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