aGynecology Service, Department of Surgery bClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Curr Opin Oncol. 2011 Sep;23(5):526-30. doi: 10.1097/CCO.0b013e3283499da9.
This review will focus on the implications of BRCA status in the patient with high-grade serous ovarian cancer, the differences between BRCA1 and BRCA2 mutations, and the most effective risk-reducing strategies.
Women with BRCA-associated epithelial ovarian cancer represent a unique group who commonly are diagnosed at a younger age, have advanced high-grade serous disease, have improved sensitivity to platinum-based chemotherapy in both the upfront and recurrent setting, and have an overall improved prognosis. Promising novel therapeutic agents such as poly (ADP-ribose) polymerase inhibitors have increased activity in patients with inherited BRCA mutations and may also have a role in patients with noninherited tumors that have decreased BRCA activity. Risk-reducing salpingo-oophorectomy (RRSO) is effective in decreasing risks of both breast and gynecologic cancer in women with BRCA mutations. However, when counseling women at inherited risk, the inherent phenotypical differences between BRCA1 and BRCA2 mutations must be considered.
Patients with BRCA-associated epithelial ovarian cancer have improved response to platinum-based chemotherapy, improved survival, and may be appropriate candidates for treatment with novel targeted therapies. RRSO remains the most effective risk-reduction strategy in women with BRCA mutations.
本篇综述将聚焦于 BRCA 状态对高级别浆液性卵巢癌患者的影响、BRCA1 和 BRCA2 突变之间的差异，以及最有效的降低风险策略。
BRCA 相关上皮性卵巢癌患者是一个独特的群体，她们通常在较年轻的年龄被诊断出来，患有高级别浆液性疾病，在初始和复发治疗中对铂类化疗药物更敏感，整体预后更好。有前途的新型治疗药物，如聚（ADP-核糖）聚合酶抑制剂，在遗传性 BRCA 突变患者中具有更高的活性，在 BRCA 活性降低的非遗传性肿瘤患者中也可能具有作用。BRCA 突变女性行预防性输卵管卵巢切除术（RRSO）可有效降低乳腺癌和妇科癌症的风险。然而，在对遗传性风险女性进行咨询时，必须考虑 BRCA1 和 BRCA2 突变之间固有的表型差异。
BRCA 相关上皮性卵巢癌患者对铂类化疗药物的反应更好，生存时间更长，可能适合使用新型靶向治疗药物治疗。RRSO 仍然是 BRCA 突变女性最有效的降低风险策略。
