Hereditary breast cancer occurs in 5-10% of all breast cancer cases. About half of the hereditary breast cancers show a mutation in BRCA1 or BRCA 2, while the rest of hereditary breast cancer cases are due to mutations in Non-BRCA-genes.
We have guidelines in Austria defining indications for predictive or therapeutic genetic testing.
Genetic counselling consists of two appointments: in the first one I examine your family history regarding all kind of cancers and if indicated I will continue with a blood test which will than be send to the laboratory at the AKH Vienna for further analysis. As soon as I get the result we will have our second appointment talking about your result and its possible consequences for you and your family.
Intensified high risk screening programs, risk reducing surgery or taking part of a study (BRCAp-study) looking at the preventive effect of Denosumab in healthy BRCA1 mutation carriers are possible consequences of a positive genetic result.
In breast cancer patients positive genetic testing (germline BRCA 1/2 mutation) lead to therapeutic consequences:
Surgically, a contralateral risk reducing mastectomy with immediate reconstruction has to be discussed with the patient, leading to a survival benefit.
Patients with locally advanced or metastatic BRCA-positive Her-2 negative breast cancer could benefit from a therapy with PARP-Inhibitors (Olaparib, Talazoparib).