Peshkin Beth N, Schwartz Marc D, Isaacs Claudine, Hughes Chanita, Main David, Lerman Caryn
Lombardi Cancer Center, Georgetown University, Washington, DC 20007, USA.
Cancer Epidemiol Biomarkers Prev. 2002 Oct;11(10 Pt 1):1115-8.
We conducted a prospective, observational study to determine breast cancer screening practices among self-referred high-risk women who pursued genetic testing for BRCA1 and BRCA2 mutations. Of the 107 unaffected women included in this study, 41 were BRCA1/2 carriers and 66 women tested negative for a mutation previously identified in their family. All of the women underwent comprehensive pre- and posttest genetic counseling, and completed baseline and 12-month follow-up telephone interviews. The baseline (pretest) interview assessed potential predictors of mammography use, including demographics and psychosocial variables. During the year after the receipt of BRCA1/2 test results, 47% of the noncarriers and 59% of the carriers reported that they had had a mammogram [chi(2) (1, n = 107) = 1.35; P = 0.24]. Only 39% of carriers ages 25-39 reported having a mammogram, versus 74% of carriers age > or =40 [chi(2) (1, n = 41) = 5.10; P = 0.02]. Among noncarriers ages 50 and older, 83% had an annual mammogram. Factors independently associated with mammography use included age (<40, > or =40; odds ratio, 7.5; confidence interval, 2.6-21.5) and test result (odds ratio, 4.6; confidence interval, 1.1-18.7). The effects of perceived likelihood of having a BRCA1/2 gene alteration and the interaction between test result and perceived likelihood were not significant. As expected, most carriers (95%) and noncarriers (77%) obtained a clinical breast exam within the year after the receipt of test results. These data suggest that in carriers, overall, the use of breast cancer screening including mammography is good, although there was a relatively low uptake rate of mammography in younger carriers. Noncarriers had very good adherence to general population screening guidelines.
我们开展了一项前瞻性观察性研究，以确定自行前来进行BRCA1和BRCA2基因突变基因检测的高危女性的乳腺癌筛查行为。在这项研究纳入的107名未患乳腺癌的女性中，41名是BRCA1/2基因携带者，66名女性检测结果为其家族中先前鉴定出的突变阴性。所有女性均接受了全面的检测前和检测后遗传咨询，并完成了基线和12个月随访电话访谈。基线（检测前）访谈评估了乳房X线摄影使用的潜在预测因素，包括人口统计学和心理社会变量。在收到BRCA1/2检测结果后的一年中，47%的非携带者和59%的携带者报告称她们进行了乳房X线摄影检查[卡方检验（1，n = 107）= 1.35；P = 0.24]。年龄在25 - 39岁的携带者中只有39%报告进行了乳房X线摄影检查，而年龄≥40岁的携带者中这一比例为74%[卡方检验（1，n = 41）= 5.10；P = 0.02]。在50岁及以上的非携带者中，83%进行了年度乳房X线摄影检查。与乳房X线摄影使用独立相关的因素包括年龄（<40岁，≥40岁；比值比，7.5；置信区间，2.6 - 21.5）和检测结果（比值比，4.6；置信区间，1.1 - 18.7）。BRCA1/2基因改变的感知可能性以及检测结果与感知可能性之间的相互作用的影响不显著。正如预期的那样，大多数携带者（95%）和非携带者（77%）在收到检测结果后的一年内进行了临床乳腺检查。这些数据表明，总体而言，携带者中包括乳房X线摄影在内的乳腺癌筛查使用率良好，尽管年轻携带者中乳房X线摄影的接受率相对较低。非携带者对一般人群筛查指南的依从性非常好。
