Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs

Abstract

This article provides an update on hereditary breast and ovarian cancer syndrome (HBOC) associated with pathogenic variants (PVs) in BRCA1/2. While many new genes have been identified and are included in testing panels, HBOC will serve as the primary example to illustrate the main concepts involved in genetic testing and management for hereditary breast and/or ovarian cancer We provide practical information regarding collecting a family history, cancer risk assessment, genetic testing and result interpretation, BRCA-associated cancer prognosis and treatment, screening recommendations, and prevention strategies. We also introduce implications of more recently identified cancer genes, polygenic risk scores (PRSs), and tumor genomic profiling. Evidence-based management strategies have been shown to reduce cancer incidence and improve survival in HBOC and other high penetrance syndromes. Obstetricians and gynecologists familiar with these concepts can identify and improve the quality of care for women and families impacted by hereditary breast and/or ovarian cancer.

Keywords: BRCA1; BRCA2; Clinical management; Genetic counseling; Genetic testing; Hereditary breast cancer; Hereditary ovarian cancer.