Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations
Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations
复制标题
DOI：
10.1038/gim.2014.48
复制
发表时间：
2014-12-01
影响因子：
8.8
通讯作者：
Powell, C. Bethan
中科院分区：
文献类型：
--
作者：
Garcia, Christine;Lyon, Liisa;Powell, C. Bethan
目的：本文的目的是描述癌症风险降低行为的妇女与BRCA变异的未知significant.Methods：回顾性图表审查，从1995年至2012年确定妇女与BRCA突变在北方加州社区系统。排除标准包括在检测后1年内丧失会员资格/死亡、既往卵巢癌或双侧输卵管卵巢切除术。主要结果是降低风险的乳房切除术和降低风险的输卵管卵巢切除术的比率。结果：69个变异的未知意义载体的平均年龄为50与47岁的305名妇女的有害突变。具有未知意义的变异的女性被随访了69个月。在具有未知意义的变异的妇女中，30%接受了降低风险的输卵管卵巢切除术，11%接受了降低风险的乳房切除术，而具有有害突变的妇女分别为74%和44%。携带有害突变的女性更有可能在检测后的第一年接受监测。比值比如下：乳房X线检查为2.1，磁共振成像为6.0，Ca-125为7.7，经阴道超声为5.0。五十六百分比的妇女与变异的意义不明的重新分类后，中位数为39个月，长于中位时间，以降低风险的输卵管卵巢切除术（18.6个月）或降低风险的乳房切除术（20.1个月）。结论：摄取风险降低策略的妇女与变异的意义不明的妇女低于妇女与有害突变。鉴于预后的不确定性和高比例的重新分类的妇女与一个变量的意义不明，个性化的咨询和指导努力监测，化学预防，或输卵管切除术建议。
Purpose: The aim of this article is to describe cancer risk-reducing behaviors of women with BRCA variants of unknown significance.Methods: A retrospective chart review from 1995 to 2012 identified women with BRCA mutations in a northern California community system. Exclusion criteria included loss of membership/death within 1 year of testing, prior ovarian cancer, or bilateral salpingo-oophorectomy. Primary outcomes were rate of risk-reducing mastectomy and risk-reducing salpingo-oophorectomy.Results: The mean age of the 69 variant of unknown significance carriers was 50 vs. 47 years for the 305 women with a deleterious mutation. Women with a variant of unknown significance were followed for a median of 69 months. Among women with a variant of unknown significance, 30% underwent risk-reducing salpingo-oophorectomy and 11% underwent risk-reducing mastectomy, as compared with 74 and 44%, respectively, for women with a deleterious mutation. Women with a deleterious mutation were more likely to undergo surveillance in the first year after testing. The odds ratios are as follows: 2.1 for mammogram, 6.0 for magnetic resonance imaging, 7.7 for Ca-125, and 5.0 for transvaginal ultrasound. Fifty-six percent of women with a variant of unknown significance were reclassified after a median of 39 months, longer than the median time to risk-reducing salpingo-oophorectomy (18.6 months) or risk-reducing mastectomy (20.1 months).Conclusion: Uptake of risk-reducing strategies among women with a variant of unknown significance is lower than among women with a deleterious mutation. Given the prognostic uncertainty and high rate of reclassification for women with a variant of unknown significance, individualizing counseling and directing efforts toward surveillance, chemoprevention, or salpingectomy are recommended.