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预防性手术在遗传性乳腺癌-卵巢癌中的作用
The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer


Lynn C. Hartmann ... 肿瘤 • 2016.02.04
相关阅读
• BRCA突变携带者的乳腺癌结局 • BRCA基因突变乳腺癌的预后 • 预防性对侧乳房切除术 • 美国妇产科医师学会更新遗传性乳腺癌卵巢癌综合征诊疗指南 • BRCA1与BRCA2突变携带者的乳腺癌和卵巢癌风险:让我们的估计更加精确 • 我应该接受对侧预防性乳房切除术吗

遗传性乳腺癌-卵巢癌是一种涉及乳腺癌或/和卵巢癌易感性增高的常染色体显性遗传综合征。诊断为乳腺癌的人数、诊断时患者年龄以及乳腺癌伴卵巢癌的发病率在遗传性乳腺癌-卵巢癌综合征的不同家族之间存在差异。在严重受累的家族中检出潜在致病突变的可能性最高,特别是那些患卵巢癌的家族。最常与遗传性乳腺癌-卵巢癌综合征相关的基因,BRCA1BRCA2中的致病突变,仅在少数疑似遗传性乳腺癌-卵巢癌综合征的家族中被检出。

预防性乳房切除术和输卵管卵巢切除术是乳腺癌和卵巢癌一级预防的可选方案,并且已被多项研究证实有效。然而这些方案对女性身体的影响巨大,决定手术的过程复杂且受到情感的左右。

在这篇综述中,我们关注了对遗传性乳腺癌-卵巢癌综合征家族中尚未患癌女性的健康管理问题。我们讨论了年龄相关女性乳腺和卵巢癌的风险评估、预防性手术的效果、手术并发症和对患者社会心理的影响、风险管理的替代策略,以及帮助个人作出决策的最佳途径。





作者信息

Lynn C. Hartmann, M.D., and Noralane M. Lindor, M.D.
From the Department of Oncology, Mayo Clinic, Rochester, MN (L.C.H.); and the Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ (N.M.L.). Address reprint requests to Dr. Hartmann at 200 First St. SW, Rochester, MN 55905, or at hartmann.lynn@mayo.edu.

 

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