… that BRCA pathogenic mutation status can … best practices for genetic counselling and
BRCA testing; it examines the challenges facing current practice and looks at adapted models …

… BRCA2 mutation carriers were missed by all of the models … To evaluate the overall performance
of each model, receiver … for selecting BRCA1/2 mutation carriers at a range of threshold …

… In practice, predictions across different models are usually compared when … these models.
In this study, we compared the performance characteristics of four mutation prediction models …

… of mutation carriers identified versus population members tested. We assess the fractions of
mutation carriers … may circumvent the need to calculate model-based carrier probabilities. …

… We assessed the validity of commonly used models for estimating mutation … models. Our
main goal was to measure how well these models discriminated between mutation carriers …

… Identification of mutation carriers can be based on a combination of clinical diagnostic …
detection of mutation carriers and therefore it is suboptimal for identification of mutation carriers. …

… Identification of BRCA mutation carriers among patients with breast cancer (BC) involves
costs and gains. Testing has been performed according to international guidelines, focusing on …

… This model would explain the sharp reduction of breast cancer incidence at menopause in
BRCA1 mutation carrier women, which does not occur in BRCA2 mutation carriers. In a study …

… Application of these models, therefore, did not rule in BRCA mutation carrier status.
Similar trends were observed for separate BRCA1/2 performance measures except BRCA2 …

… However, all models were able to discriminate well between BRCA1/2 mutation carriers
and non mutation carriers. The areas under the Receiver Operating characteristic curves (ROC) …