BRCA1 / BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies

Hereditary breast cancer is known for its strong tendency of inheritance. Most hereditary breast cancers are related to / pathogenic variants. The lifelong risk of breast cancer in pathogenic and variant carriers is approximately 65% and 45%, respectively, whereas that of ovarian cancer is estimated to be 39% and 11%, respectively. Therefore, understanding these variants and clinical knowledge on their occurrence in breast cancers and carriers are important. pathogenic variant breast cancer shows more aggressive clinicopathological features than the pathogenic variant breast cancer. Compared with sporadic breast cancer, their prognosis is still debated. Treatments of / pathogenic variant breast cancer are similar to those for -negative breast cancer, mainly including surgery, radiotherapy, and chemotherapy. Recently, various clinical trials have investigated poly (adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitor treatment for advanced-stage / pathogenic variant breast cancer. Among the various PARP inhibitors, olaparib and talazoparib, which reached phase III clinical trials, showed improvement of median progression-free survival around three months. Preventive and surveillance strategies for pathogenic variant breast cancer to reduce cancer recurrence and improve treatment outcomes have recently received increasing attention. In this review, we provide an information on the clinical features of / pathogenic variant breast cancer and clinical recommendations for pathogenic variant carriers, with a focus on treatment and prevention strategies. With this knowledge, clinicians could manage the / pathogenic variant breast cancer patients more effectively.