| Abstract: |
Families with hereditary breast and ovarian cancer syndrome (HBOC) have a greatly increased risk of breast cancer, ovarian cancer, or both. Although breast screening can detect cancers at a small size, BRCA1 mutation carriers typically develop high-grade, triple-negative breast cancer, which requires chemotherapy and negatively impacts on survival. Conversely, prophylactic surgery can effectively prevent cancer from occurring. Prophylactic mastectomy is 90% effective in avoiding breast cancer, while risk-reducing salpingo-oophorectomy can prevent 80% of ovarian cancers. These strategies are widely recommended by healthcare bodies, but can be associated with not negligible surgical and psychosocial morbidity. Evolving surgical techniques, such as nipple-sparing mastectomy, have improved the acceptability of risk-reducing surgery. Prophylactic surgery reduces the fear of developing cancer, and most patients are satisfied with their decision to undergo it. Prophylactic surgery can also be performed in patients diagnosed with HBOC-associated cancer, but the prognosis of the index cancer should be good enough for benefit to be gained. Ovarian cancer is often diagnosed at a late stage, when the prognosis is poor; therefore, the benefits of risk-reducing breast surgery are difficult to justify. However, bilateral mastectomy is a prudent option for most patients with early-stage breast cancer because of the high risk of ipsilateral breast tumor recurrence and contralateral breast cancer. Breast-conserving therapy can be acceptable for some, e.g., older BRCA2-mutated patients with hormone-sensitive breast cancer. The benefits of avoiding extensive surgery may outweigh the future risk of developing further cancer. With advances in genetics and improved access to testing, more individuals are being diagnosed with HBOC or at increased risk of developing it. The role of prophylactic surgery is more important than ever in managing HBOC, and its future looks to be assured. © Springer Nature Switzerland AG 2020. |
