Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers
Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers
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DOI：
10.1007/s10549-014-3134-0
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发表时间：
2014-11-01
影响因子：
3.8
通讯作者：
Rebbeck, Timothy R.
中科院分区：
文献类型：
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作者：
Chai, Xinglei;Friebel, Tara M.;Rebbeck, Timothy R.
BRCA1 或 BRCA2 (BRCA1/2) 的遗传性突变会导致患乳腺癌和卵巢癌的风险极高。如果采用适当的预防策略，包括降低风险的输卵管卵巢切除术 (RRSO) 或降低风险的乳房切除术 (RRM)，基因检测和咨询可以降低这些癌症的风险和死亡。然而，一些可能从这些干预措施中受益的女性并没有充分利用它们。我们在来自 20 个中心的 1,499 名患有遗传性 BRCA1/2 突变的女性的前瞻性队列中评估了 RRSO 和 RRM 的使用情况，这些女性参加了该研究，既往没有癌症或 RRSO 或 RRM，并对这些事件的发生进行了随访。我们使用 Kaplan-Meier 分析估计了该队列中 RRSO/RRM 的特定年龄使用情况。到 40 岁时，BRCA1 的 RRSO 使用率为 45%，BRCA2 的使用率为 34%；到 50 岁时，BRCA1 的使用率为 86%，BRCA2 的使用率为 71%。据估计，到 70 岁时，BRCA1 和 BRCA2 携带者的 RRM 使用率为 46%。总体而言，BRCA1 突变携带者比 BRCA2 突变携带者接受 RRSO 的频率更高，但突变测试后，BRCA2 中 RRSO 的摄取与 1960 年以来出生的女性相似。BRCA1 和 BRCA2 的 RRM 摄取相似。生育影响了 BRCA1 和 BRCA2 中 RRSO 和 RRM 的使用。 RRSO 的采用率很高，但一些女性在接受 RRSO 之前仍然被诊断出患有卵巢癌。这表明需要进行研究来了解 RRSO 的最佳时机，以最大限度地降低风险并限制 RRSO 的潜在不利后果。
Inherited mutations in BRCA1 or BRCA2 (BRCA1/2) confer very high risk of breast and ovarian cancers. Genetic testing and counseling can reduce risk and death from these cancers if appropriate preventive strategies are applied, including risk-reducing salpingo-oophorectomy (RRSO) or risk-reducing mastectomy (RRM). However, some women who might benefit from these interventions do not take full advantage of them. We evaluated RRSO and RRM use in a prospective cohort of 1,499 women with inherited BRCA1/2 mutations from 20 centers who enrolled in the study without prior cancer or RRSO or RRM and were followed forward for the occurrence of these events. We estimated the age-specific usage of RRSO/RRM in this cohort using Kaplan-Meier analyses. Use of RRSO was 45 % for BRCA1 and 34 % for BRCA2 by age 40, and 86 % for BRCA1 and 71 % for BRCA2 by age 50. RRM usage was estimated to be 46 % by age 70 in both BRCA1 and BRCA2 carriers. BRCA1 mutation carriers underwent RRSO more frequently than BRCA2 mutation carriers overall, but the uptake of RRSO in BRCA2 was similar after mutation testing and in women born since 1960. RRM uptake was similar for both BRCA1 and BRCA2. Childbearing influenced the use of RRSO and RRM in both BRCA1 and BRCA2. Uptake of RRSO is high, but some women are still diagnosed with ovarian cancer before undergoing RRSO. This suggests that research is needed to understand the optimal timing of RRSO to maximize risk reduction and limit potential adverse consequences of RRSO.