Preventive Measures for Patients with an Elevated Genetic Risk for Gynecological Malignancies, in Particular Familial Breast and Ovarian Cancer.

Abstract

Approximately 70 550 women receive a diagnosis of breast cancer in Germany each year. Ovarian cancer is much rarer, with approximately 7180 new cases per year. A woman's individual risk of breast and ovarian cancer can be quantitatively estimated with tools that are available online; these are playing an increasingly important role in genetic counseling. Environmental factors, lifestyles, and discoveries in epigenetics all need to be taken into account. An understanding of potential preventive measures for patients at elevated genetic risk of gynecological malignancies is becoming increasingly important for precise counseling in clinical practice. We conducted a literature search in PubMed up to September 2025, taking into account current guidelines on primary, secondary, and tertiary prevention for women at elevated genetic risk of gynecological malignancies, with a particular focus on familial breast and ovarian cancer. The lifetime risk of breast cancer in women with a pathogenic variant of the BRCA1 or BRCA2 gene is approximately 70%. For ovarian cancer, it is approximately 44% and 17%, respectively. Primary prevention includes risk-reducing surgery such as mastectomy and oophorectomy/salpingectomy, as well as the use of certain preventive drugs. An intensified early detection program for breast cancer is a secondary prevention measure. Tertiary prevention includes the option of further risk-reducing measures, such as contralateral mastectomy and the use of PARP inhibitors, for women already under treatment for hereditary breast or ovarian cancer. This article highlights the wide range of preventive options available for hereditary gyne - cological malignancies.