为生殖线BRCA1/2和PALB2携带者提供咨询框架,考虑降低风险的乳腺切除术
Stephanie M Wong1,2,3, Carla Apostolova1,2, Elisheva Eisenberg1,2
1Department of Surgery, McGill University, Montreal, QC H3G 1A4, Canada.
Current oncology (Toronto, Ont.)
|January 22, 2024
概括
患有BRCA1/2或PALB2基因突变的女性面临更高的乳腺癌风险. 降低风险的乳腺切除术 (RRM) 是一种选择,越来越多的证据表明其对生存有益,特别是在BRCA1携带者身上.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 手术预防 手术预防
背景情况:
- 女性携带BRCA1/2和PALB2生殖系致病变体的女性携带者有提高终身乳腺癌风险.
- 降低风险的乳房切除术 (RRM) 是预防的外科选择,但其生存益处和吸收受到各种因素的影响.
研究的目的:
- 审查目前对降低风险的乳房切除术 (RRM) 对BRCA1/2和PALB2生殖系致病变体携带者的理解.
- 讨论对剩余寿命风险的量化和RRM的绝对好处.
- 探索RRM不断变化的趋势,技术和考虑因素.
主要方法:
- 对BRCA1/2和PALB2载体中RRM研究的文献综述.
- 对影响RRM吸收和生存结果的因素的分析.
- 讨论手术技术和手术前咨询方面的考虑.
主要成果:
- 最近的研究表明,RRM的潜在生存益处,特别是在BRCA1载体中,具有挑战性的历史咨询.
- RRM的采用已显著增加,但基于社会人口统计学因素和地理位置的变化.
- 节省乳头的乳房切除技术和重建选择已经减少了RRM的发病率.
结论:
- RRM是对高风险个体越来越多地采用的预防策略,有不断变化的证据支持其生存益处.
- 精心的手术前咨询是必不可少的,应对残留风险,生存数据,手术结果和未来的监测.
- 手术技术的进步,包括感觉保护和机器人方法,正在提高RRM的结果,并可能增加未来的采用.
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