在BRCA1和BRCA2病原型变体载体中,具有或没有降低风险的乳房切除术的生存结果
Ashu Gandhi1,2,3, Sacha J Howell1,2,3,4, Elaine F Harkness5
1Division of Cancer Sciences, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, United Kingdom.
概括
与监测相比,双边降低风险的乳腺切除显著降低了BRCA1/2载体的乳腺癌发病率. 然而,两组的整体存活率和乳腺癌特异性存活率是相似的.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 预防医学 预防医学
背景情况:
- 在BRCA1和BRCA2基因 (pvBRCA1/2) 中的致病变体 (pvs) 会增加乳腺和卵巢癌的风险.
- 许多患有pvBRCA1/2的女性选择双边降低风险的乳房切除术 (BRRM),认为这可以改善整体存活率 (OS).
- 少数女性经历BRRM后后悔,需要比较结果与监测.
研究的目的:
- 为了比较pvBRCA1/2接受BRRM的女性与选择成像监测的女性的长期瘤学结果.
- 为了评估两组之间的整体存活率 (OS),乳腺癌特定死亡率和乳腺癌发病率.
主要方法:
- 对参加区域家族史/遗传学服务的pvBRCA1/2妇女进行前性队列研究.
- 参与者要么接受BRRM,要么根据英国国家指南选择成像监视.
- 评估的结果包括OS,乳腺癌特异性死亡和乳腺癌发病率.
主要成果:
- 总共有460名妇女接受了BRRM,而745名选择了监测.
- 乳腺癌发病率在BRRM (0.15%) 后比监测 (每年2.4%) 低了94%.
- 乳腺癌特定的死亡率和生存率在BRRM和监测组之间是相似的.
结论:
- 对于患有pvBRCA1/2的女性来说,成像监测是一个可行的选择,因为乳腺癌特异性存活率和生存率并没有受到影响.
- BRRM显著降低了乳腺癌发病率,这对于考虑这种手术的女性来说是一个关键因素.
- 这些发现为监测提供了保证,并突出了BRRM的风险降低益处.
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