Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis.
Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis.
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DOI：
10.1097/md.0000000000004975
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发表时间：
2016-10
期刊：
影响因子：
1.6
通讯作者：
Huo D
中科院分区：
文献类型：
--
作者：
Baretta Z;Mocellin S;Goldin E;Olopade OI;Huo D
BRCA种系突变状态对乳腺癌患者预后的影响尚不清楚。我们的目的是系统地回顾和荟萃分析BRCA生殖系突变对乳腺癌患者整体和特定亚组（包括三阴性乳腺癌患者、德系犹太人血统患者和I-III期疾病患者）多种生存结局的影响的现有证据。60项研究符合所有纳入标准，纳入本荟萃分析。这些研究涉及105220名乳腺癌患者，其中3588名（3.4%）是BRCA突变携带者。使用随机效应模型评估BRCA基因突变状态与总生存期（OS）、乳腺癌特异性生存期（BCSS）、无复发生存期（RFS）和无远处转移生存期（DMFS）之间的关系。在I-III期乳腺癌患者中，BRCA1突变携带者的OS比brca阴性/散发病例更差（风险比，HR 1.30, 95% CI: 1.11-1.52）， BCSS比散发/ brca阴性患者更差（HR 1.45, 95% CI: 1.01-2.07）。BRCA2突变携带者的BCSS比散发/ brca阴性患者更差（HR 1.29, 95% CI: 1.03-1.62），尽管他们的OS相似。在三阴性乳腺癌中，BRCA1/2突变携带者的OS优于brca阴性患者（HR 0.49, 95% CI: 0.26-0.92）。在德系犹太妇女中，BRCA1/2突变携带者比散发/ brca阴性患者死于乳腺癌（HR 1.44, 95% CI: 1.05-1.97）和远处转移（HR 1.82, 95% CI: 1.05-3.16）的风险更高。我们的研究结果支持对BRCA种系突变高风险患者的BRCA突变状态进行评估，以更好地确定这些患者的乳腺癌预后。
Supplemental Digital Content is available in the text The contribution of BRCA germline mutational status to breast cancer patients’ prognosis is unclear. We aimed to systematically review and perform meta-analysis of the available evidence of effects of BRCA germline mutations on multiple survival outcomes of breast cancer patients as a whole and in specific subgroups of interest, including those with triple negative breast cancer, those with Ashkenazi Jewish ancestry, and patients with stage I–III disease. Sixty studies met all inclusion criteria and were considered for this meta-analysis. These studies involved 105,220 breast cancer patients, whose 3588 (3.4%) were BRCA mutations carriers. The associations between BRCA genes mutational status and overall survival (OS), breast cancer-specific survival (BCSS), recurrence-free survival (RFS), and distant metastasis-free survival (DMFS) were evaluated using random-effect models. BRCA1 mutation carriers have worse OS than BRCA-negative/sporadic cases (hazard ratio, HR 1.30, 95% CI: 1.11–1.52) and worse BCSS than sporadic/BRCA-negative cases among patients with stage I–III breast cancer (HR 1.45, 95% CI: 1.01–2.07). BRCA2 mutation carriers have worse BCSS than sporadic/BRCA-negative cases (HR 1.29, 95% CI: 1.03–1.62), although they have similar OS. Among triple negative breast cancer, BRCA1/2 mutations carriers had better OS than BRCA-negative counterpart (HR 0.49, 95% CI: 0.26–0.92). Among Ashkenazi Jewish women, BRCA1/2 mutations carriers presented higher risk of death from breast cancer (HR 1.44, 95% CI: 1.05–1.97) and of distant metastases (HR 1.82, 95% CI: 1.05–3.16) than sporadic/BRCA-negative patients. Our results support the evaluation of BRCA mutational status in patients with high risk of harboring BRCA germline mutations to better define the prognosis of breast cancer in these patients.