Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.

ABSTRACT: Many studies have evaluated the performance of risk assessment models for BRCA1/2 mutation carrier probabilities in different populations, but to our knowledge very few studies have been conducted in the German population so far. In the recent study, we validated the performance of three risk calculation models by names BRCAPRO, Myriad and BOADICEA in 183 German families who had undergone molecular testing of mutations in BRCA1 and BRCA2 with an indication based on clinical criteria regarding their family history of cancer. The sensitivity and specificity at the conventional threshold of 10% as well as for a threshold of 20% were evaluated. The ability to discriminate between carriers and non-carriers was judged by the area under the receiver operating characteristics curve. We further foc

SUBMITTER: Schneegans SM 

PROVIDER: S-EPMC3365232 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature