Department of Medical Oncology, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium.
Oncology Department AC Camargo Cancer Center, Sao Paulo, Brazil.
Semin Oncol. 2020 Oct;47(5):243-248. doi: 10.1053/j.seminoncol.2020.07.006. Epub 2020 Aug 18.
Women diagnosed with breast cancers (BCs) that harbor BRCA1/2 mutations have an increased lifetime risk of a second BC and ovarian cancer. They may benefit from risk-reducing surgical strategies such as mastectomy and salpingo-oophorectomy. In cases of triple negative BC with BRCA mutation, there is some evidence that adding platinum-agents in the neoadjuvant setting improves the pathologic complete response. Lastly, ongoing clinical trials testing the efficacy of PARP inhibitor therapy in tumors with BRCA1/2 mutations will be determinant for future guideline recommendations in selecting best adjuvant treatment options for this specific population. For pre-menopausal patients whose tumors have BRCA mutations and hormone-receptor positive BC, the option of combined bilateral annexectomy and hormonal therapy with aromatase inhibitor can be discussed with high-risk patients. This review summarizes the latest results from clinical trials evaluating treatment and prevention strategies for breast cancers harboring BRCA1/2 mutations and discusses the current management of this patient population.
被诊断患有携带有 BRCA1/2 突变的乳腺癌 (BC) 的女性,一生中发生第二原发乳腺癌和卵巢癌的风险增加。她们可能受益于降低风险的外科策略,如乳房切除术和输卵管卵巢切除术。在携带有 BRCA 突变的三阴性 BC 中,有一些证据表明,在新辅助治疗中添加铂类药物可以提高病理完全缓解率。最后,正在进行的临床试验正在测试 PARP 抑制剂治疗在携带有 BRCA1/2 突变的肿瘤中的疗效,这将对未来的指南建议在选择针对这一特定人群的最佳辅助治疗方案方面具有决定性意义。对于肿瘤携带有 BRCA 突变且激素受体阳性的绝经前患者,可以与高危患者讨论联合双侧附件切除术和芳香化酶抑制剂的激素治疗选择。本综述总结了评估携带有 BRCA1/2 突变的乳腺癌的治疗和预防策略的最新临床试验结果,并讨论了该患者人群的当前管理。