De Felice Francesca, Marchetti Claudia, Musella Angela, Palaia Innocenza, Perniola Giorgia, Musio Daniela, Muzii Ludovico, Tombolini Vincenzo, Benedetti Panici Pierluigi
Department of Radiotherapy, Policlinico Umberto I "Sapienza" University of Rome, Rome, Italy.
Ann Surg Oncol. 2015 Sep;22(9):2876-80. doi: 10.1245/s10434-015-4532-1. Epub 2015 Mar 26.
Women with BRCA1 and BRCA2 mutations have substantially elevated risk of developing breast cancer. The aim of this study was to clarify the role of bilateral risk-reducing mastectomy (BRRM) in reducing breast cancer risk in women carriers of BRCA1 and BRCA2 mutations.
The Pubmed, MEDLINE and Scopus databases were searched to retrieve articles written in the English language. Two investigators independently extracted the characteristics and results of the selected studies. Only prospective trials with available absolute numbers of breast cancer and death events were included. Pooled hazard ratio (HR) with 95 % confidence interval (CI) was calculated using fixed or random effects model.
Meta-analysis of four prospective studies, including 2635 patients, demonstrated a significant risk reduction of breast cancer incidence in BRCA1 and BRCA2 mutation carriers receiving BRRM (HR 0.07; 95 % CI 0.01-0.44; p = 0.004). Among patients without previous risk-reducing salpingo-oophorectomy, a significant benefit was similarly recorded (HR 0.06; 95 % CI 0.01-0.41; p = 0.005).
Performing BRRM may lead to highly significant risk reduction of breast cancer in BRCA1 and BRCA2 mutation carriers. These data allow clinicians to discuss more in-depth with patients all the available options in order to design better management strategies.
携带BRCA1和BRCA2基因突变的女性患乳腺癌的风险大幅升高。本研究的目的是阐明双侧预防性乳房切除术（BRRM）在降低携带BRCA1和BRCA2基因突变女性患乳腺癌风险中的作用。
检索Pubmed、MEDLINE和Scopus数据库以获取英文撰写的文章。两名研究者独立提取所选研究的特征和结果。仅纳入有乳腺癌和死亡事件绝对数量可用的前瞻性试验。使用固定或随机效应模型计算合并风险比（HR）及95%置信区间（CI）。
对四项前瞻性研究（包括2635例患者）的荟萃分析表明，接受BRRM的BRCA1和BRCA2基因突变携带者乳腺癌发病率显著降低（HR 0.07；95%CI 0.01 - 0.44；p = 0.004）。在未进行过预防性输卵管卵巢切除术的患者中，同样记录到显著获益（HR 0.06；95%CI 0.01 - 0.41；p = 0.005）。
实施BRRM可能会使BRCA1和BRCA2基因突变携带者的乳腺癌风险大幅降低。这些数据使临床医生能够与患者更深入地讨论所有可用选项，以设计更好的管理策略。
