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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 focused on the performance characteristic of these models in patients carrying large genomic rearrangements as a subtype of mutations which is currently gaining increasing importance. BRCAPRO and BOADICEA performed almost equally well in our patient population, but we found a lack of agreement to Myriad. The results obtained from this study were consistent with previously published results from other population and racial/ethnic groups. We suggest using model specific decision thresholds instead of the recommended universal value of 10%. We further suggest integrating the CaGene5 software package, which includes BRCAPRO and Myriad, in the genetic counselling of German families with suspected inherited breast and ovarian cancer because of the good performance of BRCAPRO and the substantial ease of use of this software.
Pubmed ID: 22160602
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When the BRCA1 gene was cloned, a Steering Committee was initiated to help coordinate the formation of a Breast Cancer Information Core (BIC) that could act as such a central repository. NHGRI has chosen as the most accessible format for the BIC this World Wide Web site. The recent identification of mutations in breast cancer susceptibility genes has provided the exciting opportunity to help identify women who are at high risk to develop breast cancer. One of the serious impediments to achieving clinical benefits from this information however, is finding and assessing the significance of mutations in these new susceptibility genes. It is imperative that the detection and interpretation of these mutations is coordinated and that this information is made available to as many qualified investigators as possible. There are many sites on the web that contain general as well as scientific information relevant to breast cancer. A partial list of these can be found here. Having participated in the poorly coordinated analysis of other cancer susceptibility genes, we consider it important to create and maintain a central repository for information regarding mutations and polymorphisms. NHGRI also think it critical to make available the reagents necessary to carry out many different techniques for the detection of such mutations. Sponsors: This resource is supported by the National Human Genome Research Institute (NHGRI). Keywords: Breast, Cancer, Mutation, Clincial, Polymorphism, Gene, Scientific,
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