Risk prediction algorithms for BRCA mutation cariiers (TRANsIBCCS)

BRCA 1 and BRCA 2 mutation carriers have high personal risks of developing breast and ovarian cancer, particularly at young age. However despite of the fact that we are now generating knowledge on hormonal genetic modifiers of the breast and ovarian cancer risk in mutation carriers, age specific risks still very considerably within individuals. While we now have increasing knowledge about genetic and lifestyle risk modifiers, we have not been incorporated in risk prediction models and the lack of specific risk prediction results in greatly varying strategies in risk reduction and early detection. In our project we aim to evaluate the effect of genetic and predicative factors on the individual breast and ovarian cancer risk in BRCA 1 and BRCA 2 mutation carriers. Second, we aim to elucidate the role of breast intensity in BRCA mutation carriers and it is the tendency on risk reducing surgery of ovaries. Third, we aim to develop a comprehensive web-based risk prediction tool that could have in the evaluation of individual risk of BRCA 1 and BRCA 2 mutation carriers.

The European research collaboration should develop an online- based prediction tool to evaluate the individual risk factors for women with BRCA 1 and 2 mutation carriers as despite of the present knowledge of hormonal, lifestyle and modifying genes of hereditary breast and ovarian cancer factors the individual age- specific risks significantly vary. . In addition to the known risk modifiers, breast density will be included in the predictive tool. The diagnostic detection of mutated BRCA 1 and 2 breast cancer genes decide the following therapeutic strategy. Imprecise risk prediction approaches lead to different risk assessments within Europe. The Center of Hereditary Breast- and Ovarian Cancer at the Medical University of Vienna / Vienna General Hospital has been one collaboration partner and evaluated and carried out a reconciliation of all existing data of BRCA- mutation carriers and retrieved the required data that complied with the selection criteria by using Progeny a database software for pedigree entries. Furthermore all existing X-ray reports of suitable BRCA- mutation carriers were summited up. Missing and incomplete parameters or medical reports, external sonographic reports in particular, had to be additionally obtained by contacting the respective mutation carriers and the responsible radiologist. All received medical reports were scanned and digitalised due to the established guidelines. Questionnaires were forward to all selected 416 BRCA- mutation carriers by mail and were sent back after completion. Those obtained data were entered in the appropriate database and regularly transferred to the European collaboration partners.