Hematology-Oncology Fellowship Program, Mayo Clinic, Rochester, MN.
Nancy and James Grosfeld Cancer Genetics Center, Beaumont Cancer Institute, Beaumont Health, Royal Oak, MI; Department of Internal Medicine, Beaumont Health, Royal Oak, MI.
Clin Breast Cancer. 2018 Oct;18(5):e1229-e1235. doi: 10.1016/j.clbc.2017.12.014. Epub 2017 Dec 30.
The effect of germline BRCA mutations on the outcomes of patients with triple-negative breast cancer (TNBC) is not well understood.
The present retrospective study included women with newly diagnosed TNBC from January 1, 2004 to December 30, 2013. The demographic and tumor characteristics, genetic testing results, and outcomes were collected by a review of the patients' medical records. The outcomes were compared between the BRCA and BRCA women. Kaplan-Meier curves were plotted for survival analysis, and Cox proportional hazard regression was used to determine the predictors of recurrence-free survival.
A total of 266 TNBC patients who had undergone BRCA testing were included in the final analysis. Of the 266 patients, 72 (27.0%) tested positive for a pathogenic BRCA mutation and 194 (73.0%) tested negative. BRCA women were more likely to be diagnosed with breast cancer at a younger age than were the BRCA women. Mutation carriers were also more likely to undergo bilateral mastectomy and less likely to receive radiation. The 2- and 5-year overall survival in BRCA women was 97.1% and 83.1% and was 97.3% and 89.7% in the BRCA women, respectively. No statistically significant difference was found in overall survival between the BRCA and BRCA group. No statistically significant difference was noted in the rate of locoregional recurrence, distant recurrence, or recurrence-free survival between the BRCA and BRCA women.
Our study has demonstrated that BRCA mutation carrier status does not affect overall survival or recurrence-free survival in patients with TNBC.
胚系 BRCA 突变对三阴性乳腺癌（TNBC）患者结局的影响尚不清楚。
本回顾性研究纳入了 2004 年 1 月 1 日至 2013 年 12 月 30 日期间新诊断为 TNBC 的女性患者。通过查阅患者病历，收集了人口统计学和肿瘤特征、基因检测结果以及结局等数据。比较了 BRCA 阳性和 BRCA 阴性患者的结局。绘制生存分析的 Kaplan-Meier 曲线，并用 Cox 比例风险回归分析确定无复发生存的预测因素。
共纳入 266 例接受 BRCA 检测的 TNBC 患者进行最终分析。在 266 例患者中，72 例（27.0%）检测出致病性 BRCA 突变阳性，194 例（73.0%）检测出阴性。BRCA 阳性患者的乳腺癌诊断年龄较 BRCA 阴性患者更年轻。突变携带者更倾向于接受双侧乳房切除术，较少接受放疗。BRCA 阳性患者的 2 年和 5 年总生存率分别为 97.1%和 83.1%，BRCA 阴性患者分别为 97.3%和 89.7%。BRCA 阳性和 BRCA 阴性患者的总生存率无统计学差异。BRCA 阳性和 BRCA 阴性患者的局部区域复发率、远处复发率或无复发生存率无统计学差异。
本研究表明，BRCA 突变携带状态并不影响 TNBC 患者的总生存率或无复发生存率。
