Genetic Testing in Breast Cancer: Narrative Review and Clinical Insights

Identifying hereditary breast cancer is increasingly important, as germline pathogenic variants not only influence lifetime cancer risk but also guide surveillance, preventive strategies and targeted treatments. While breast cancer genes (BRCA1 and BRCA2) remain central to hereditary breast and ovarian cancers, progress in cancer genetics has shifted clinical practice toward broader multigene testing approaches.

We reviewed the recent literature on the molecular basis of hereditary breast cancer, current genetic testing strategies, guideline-based indications, and the psychological, ethical and social challenges of genetic risk disclosure.

Next-generation sequencing (NGS)-based multigene panels enable the efficient identification of high- and moderate-penetrance variants, supporting personalized screening, risk-reducing interventions and treatment selection, including eligibility for enzyme poly ADP ribose polymerase (PARP) inhibitors. However, clinical implementation remains limited by persistent barriers, such as variants of uncertain significance and unequal access to genetic counselling and testing services.

Genetic testing is reshaping breast cancer care by bridging prevention and precision oncology. Improving access, strengthening counselling pathways and optimizing variant interpretation are essential steps to ensure that genomic advances translate into real-world clinical benefits.