Breast Cancer Group, Department of Medicine, Gustave Roussy, 114 rue Edouard Vaillant, 94805, Villejuif, France,
Med Oncol. 2014 Mar;31(3):850. doi: 10.1007/s12032-014-0850-6. Epub 2014 Jan 22.
BRCA2 mutation carriers typically develop luminal B breast cancers. Data on the effectiveness of neoadjuvant chemotherapy in these patients are limited because of small patient numbers and lack of prospective studies. We used our 15-year genetic clinic database to compare retrospectively the pathological complete response rates (pCR) and rates of post-chemotherapy nodal involvement among BRCA2 carriers and BRCA1/2-negative (WT) patients with luminal B tumours, all treated with neoadjuvant anthracyclines±taxanes-based chemotherapy. Twenty-nine BRCA2 carriers and 67 WT patients fulfilled the inclusion criteria and were analysed. Patients and treatment characteristics were represented. A pCR occurred in 3 (10%) BRCA2 patients and 13 (19%) WT patients (p=0.43). Twenty (69%) BRCA2 carriers and 34 (51%) WT patients remained node-positive at surgery (p=0.17). BRCA2 germline mutations are associated with a low probability of pCR and a high risk of axillary invasion. Alternative treatments are highly expected, and clinical trials are needed to set the best treatment regimen in this population.
BRCA2 突变携带者通常会发展为腔 B 型乳腺癌。由于患者数量少且缺乏前瞻性研究，这些患者接受新辅助化疗的有效性数据有限。我们使用我们 15 年的遗传诊所数据库，回顾性比较了接受新辅助蒽环类药物联合紫杉类药物化疗的 BRCA2 携带者和 BRCA1/2 阴性（WT）患者中腔 B 型肿瘤的病理完全缓解率（pCR）和化疗后淋巴结受累率。符合纳入标准并进行分析的有 29 名 BRCA2 携带者和 67 名 WT 患者。患者和治疗特征具有代表性。在 BRCA2 患者中有 3 例（10%）和 WT 患者中有 13 例（19%）发生 pCR（p=0.43）。20 名（69%）BRCA2 携带者和 34 名（51%）WT 患者在手术后仍有淋巴结阳性（p=0.17）。BRCA2 种系突变与 pCR 的低概率和腋窝侵犯的高风险相关。需要替代治疗方法，并且需要临床试验来确定该人群的最佳治疗方案。
