Breast Center, Peking University, People's Hospital, Beijing, China.
Breast Cancer Res Treat. 2021 Apr;186(3):591-605. doi: 10.1007/s10549-021-06104-y. Epub 2021 Feb 9.
Studies evaluating role of BRCA mutations on the survival outcomes in breast cancer (BC) patients have given confounding results and hence, in this meta-analysis, we assessed the impact of BRCA mutations on survival in BC patients.
Studies comparing survival outcomes of BC patients having BRCA mutations against wildtype BRCA phenotype were retrieved from PubMed, EMBASE, and Cochrane Library. Overall survival (OS), disease-free survival (DFS), distant metastasis-free survival (DMFS), and breast cancer-specific survival (BCCS) were the outcomes. Hazard ratio (HR) with 95% confidence interval (CI) was used for analysis. Subgroup analysis was performed for survival based on triple negative breast cancer (TNBC) and follow-up durations. The meta-analysis was performed as per PRISMA guidelines.
Altogether, 30 articles with 35,972 patients (mean age 45.6 years) were included. Patients with BRCA 1 mutation had significantly lower OS (HR [95% CI] 1.2 [1.08, 1.33]; P < 0.001), BRCA 2 mutation had significantly lower DFS (HR [95% CI] 1.35 [1.1, 1.67]; P = 0.0049) and BCSS (HR [95%CI] 1.46 [1.26, 1.7]; P < 0.0001), and TNBC patients with BRCA 1 mutation had significantly poor DFS (HR [95% CI] 1.65 [1.08, 2.54]; P = 0.0216). Based on follow-up duration, the OS in BRCA 1-mutated patients revealed significantly poorer outcomes in studies with ≤ 5 years (HR 1.48) and > 5 years (HR 1.14) of follow-up. In BRCA 2 -mutated patients, the OS was significantly poorer in studies with > 5 years of follow-up (HR 1.39, P < 0.05).
BC patients with BRCA 1 or BRCA 2 mutations had poor survival outcomes and hence screening patients with BC for BRCA mutations might help in strategizing their treatment and improving their survival.
评估 BRCA 突变对乳腺癌（BC）患者生存结果的研究得出了相互矛盾的结果，因此，在这项荟萃分析中，我们评估了 BRCA 突变对 BC 患者生存的影响。
从 PubMed、EMBASE 和 Cochrane Library 中检索了比较携带 BRCA 突变与野生型 BRCA 表型的 BC 患者生存结果的研究。总生存（OS）、无病生存（DFS）、远处转移无复发生存（DMFS）和乳腺癌特异性生存（BCCS）是观察结果。使用风险比（HR）和 95%置信区间（CI）进行分析。根据三阴性乳腺癌（TNBC）和随访时间进行亚组分析。荟萃分析按照 PRISMA 指南进行。
总共纳入了 30 篇文章，共 35972 名患者（平均年龄 45.6 岁）。BRCA1 突变患者的 OS 显著降低（HR [95%CI] 1.2 [1.08, 1.33]；P < 0.001），BRCA2 突变患者的 DFS 和 BCCS 显著降低（HR [95%CI] 1.35 [1.1, 1.67]；P = 0.0049），BRCA1 突变的 TNBC 患者的 DFS 显著降低（HR [95%CI] 1.65 [1.08, 2.54]；P = 0.0216）。根据随访时间，BRCA1 突变患者的 OS 在随访时间≤5 年（HR 1.48）和>5 年（HR 1.14）的研究中显示出更差的结果。BRCA2 突变患者的 OS 在随访时间>5 年的研究中显著更差（HR 1.39，P < 0.05）。
携带 BRCA1 或 BRCA2 突变的 BC 患者生存结果较差，因此对 BC 患者进行 BRCA 突变筛查可能有助于制定治疗策略并提高其生存率。
