Division of Hematology/Oncology, Department of Internal Medicine, University of California, San Francisco, 505 Parnassus Ave, Room M1286, San Francisco, CA 94117, USA.
JAMA Intern Med. 2013 Jan 28;173(2):96-103. doi: 10.1001/2013.jamainternmed.962.
For women at potentially increased risk for ovarian cancer, data regarding screening and risk reduction are limited. Previous studies have reported on the behaviors of BRCA mutation carriers, but less is known about the behaviors of non- BRCA carriers. We surveyed a large cohort of women after BRCA testing to identify the prevalence and posttest predictors of risk-reducing and screening interventions.
A median of 3.7 years after BRCA testing, 1447 women who received genetic counseling and BRCA testing at 2 hospital sites were surveyed, with a 77.6% response rate. We analyzed data from 1077 survey respondents. We performed univariate and multivariate logistic regression analyses to identify predictors of risk-reducing salpingo-oophorectomy (RRSO), screening transvaginal ultrasonography (TVUS), and screening serum cancer antigen 125 (CA-125).
Among the respondents, 201 women (18.7%) received positive test results for a deleterious mutation, 103 women (9.6%) received true-negative results, and 773 women (71.8%) received uninformative results. Overall, 19.1% of eligible women underwent RRSO and 39.6% used screening procedures. A positive BRCA result predicted RRSO (odds ratio [OR], 28.1; 95% CI, 16.2-48.6), TVUS (9.5 [4.3-21.0]), and serum CA-125 (13.0 [5.5-29.0]). Similarly, a true-negative BRCA result reduced the OR for RRSO (0.1 [0.0-0.6]), TVUS (0.2 [0.1-0.5]), and serum CA-125 (0.3 [0.1-0.7]). Of the 71.8% of women who received uninformative results after BRCA testing, 12.3% subsequently underwent RRSO, 33.8% reported ever having undergone screening serum CA-125 since BRCA testing, and 37.3% reported ever having undergone screening TVUS since BRCA testing.
Results of BRCA testing strongly predict RRSO and ovarian cancer screening. Use of RRSO and ovarian screening was reported in a sizable percentage of non- BRCA carriers despite insufficient data to determine the effectiveness of these interventions.
对于有卵巢癌风险增加的女性，关于筛查和降低风险的数据有限。先前的研究报告了 BRCA 突变携带者的行为，但对非 BRCA 携带者的行为了解较少。我们对大量接受 BRCA 检测后的女性进行了调查，以确定降低风险和筛查干预措施的流行率和检测后预测因素。
在 BRCA 检测后平均 3.7 年，对 2 家医院接受遗传咨询和 BRCA 检测的 1447 名女性进行了调查，应答率为 77.6%。我们分析了 1077 名调查应答者的数据。我们进行了单变量和多变量逻辑回归分析，以确定降低风险的输卵管卵巢切除术（RRSO）、经阴道超声检查（TVUS）和血清癌症抗原 125 筛查（CA-125）的预测因素。
在应答者中，201 名女性（18.7%）的检测结果为有害突变阳性，103 名女性（9.6%）的检测结果为真阴性，773 名女性（71.8%）的检测结果为无信息。总体而言，19.1%的合格女性接受了 RRSO，39.6%的女性使用了筛查程序。BRCA 阳性结果预测 RRSO（优势比[OR]，28.1；95%置信区间，16.2-48.6）、TVUS（9.5[4.3-21.0]）和血清 CA-125（13.0[5.5-29.0]）。同样，BRCA 真阴性结果降低了 RRSO（0.1[0.0-0.6]）、TVUS（0.2[0.1-0.5]）和血清 CA-125（0.3[0.1-0.7]）的 OR。在接受 BRCA 检测后获得无信息结果的 71.8%的女性中，12.3%随后接受了 RRSO，33.8%报告自 BRCA 检测以来曾进行过血清 CA-125 筛查，37.3%报告自 BRCA 检测以来曾进行过 TVUS 筛查。
BRCA 检测结果强烈预测 RRSO 和卵巢癌筛查。尽管缺乏确定这些干预措施有效性的数据，但在相当一部分非 BRCA 携带者中，RRSO 和卵巢筛查的应用率较高。
