Prevention of breast and ovarian cancer in women with gene mutations

In more than 20% of all (index) patients who fulfil the criteria of the German Consortium of Familial Breast and Ovarian Cancer for germline testing, mutations in known risk genes are identified. If a germline mutation is detected healthy women in a family can subsequently be offered predictive testing. In the course of personalized medicine, other genetic (polygenic risk scores, PRS) and nongenetic risk factors (lifestyle, hormonal and reproductive risk factors, mammographic density) are increasingly receiving attention, which can significantly modulate the individual risk of disease. Using the CanRisk analysis in patients who already have the disease the secondary disease risk can be specified in more detail. In healthy women the offer of a risk-adjusted prevention (participation in a program for intensified detection of breast cancer) can be adapted to the individual risk. Individualized prevention requires prospective cohort studies to evaluate a benefit for women seeking advice. The analyses should therefore be embedded in a documentation and evaluation concept. Various materials have been developed in easy and plain language to address the increased complexity resulting from new developments in the field. In addition, patient decision aids support carriers of pathogenic mutations in BRCA1/2 in making decisions about preventive measures.