Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Breast Cancer Res Treat. 2011 Aug;129(1):157-64. doi: 10.1007/s10549-011-1423-4. Epub 2011 Mar 4.
Breast cancer screening is offered to BRCA1 and BRCA2 mutation carriers from the age of 25 years because of their increased risk of breast cancer. As ovarian cancer screening is not effective, risk-reducing salpinghooophorectomy (RRSO) is offered after child bearing age. RRSO before menopause reduces the breast cancer risk as well as breast density. It can be questioned whether after premenopausal RRSO, the intensive breast cancer screening program needs modification. We evaluated the effectiveness of breast cancer screening by clinical breast examination (CBE), mammography, and MRI in a population of 88 BRCA1 and 51 BRCA2 mutation carriers who had RRSO before the age of 52. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for each screening modality. During 422 women years, 14 breast cancers were diagnosed; 2 prevalent, 10 screen detected and 2 interval breast cancers (12 in BRCA1 and 2 in BRCA2 mutation carriers). Sensitivity, specificity, PPV, and NPV for the combined screening were 85.7%, 97.6%, 30.0%, and 99.8%, respectively. No tumors were found with CBE, MRI had a sensitivity of 60.0% and mammography of 55.6%. Off all the tumors, 60% were node positive. Effectiveness of CBE and mammography was comparable to earlier findings. MRI screening seemed less effective than earlier findings. After RRSO, the breast cancer risk in BRCA1 and BRCA2 mutation carriers is still high enough to justify intensive breast cancer screening with MRI and mammography.
乳腺癌筛查为 BRCA1 和 BRCA2 基因突变携带者提供，因为他们的乳腺癌风险增加。由于卵巢癌筛查无效，因此在生育年龄后提供降低风险的输卵管卵巢切除术（RRSO）。绝经前的 RRSO 降低了乳腺癌风险和乳腺密度。绝经前 RRSO 后，是否需要修改密集型乳腺癌筛查方案存在疑问。我们评估了 88 名 BRCA1 和 51 名 BRCA2 基因突变携带者的 RRSO 年龄均小于 52 岁，接受临床乳房检查（CBE）、乳房 X 线照相术和 MRI 进行的乳腺癌筛查的有效性。计算了每种筛查方式的敏感性、特异性、阳性预测值（PPV）和阴性预测值（NPV）。在 422 名女性年中，诊断出 14 例乳腺癌；2 例为现患癌，10 例为筛查发现，2 例为间隔性乳腺癌（BRCA1 中有 12 例，BRCA2 中有 2 例）。联合筛查的敏感性、特异性、PPV 和 NPV 分别为 85.7%、97.6%、30.0%和 99.8%。CBE 未发现肿瘤，MRI 的敏感性为 60.0%，乳房 X 线照相术的敏感性为 55.6%。所有肿瘤中，有 60%为淋巴结阳性。CBE 和乳房 X 线照相术的有效性与早期发现相当。MRI 筛查似乎不如早期发现有效。RRSO 后，BRCA1 和 BRCA2 基因突变携带者的乳腺癌风险仍然很高，有必要进行 MRI 和乳房 X 线照相术的密集型乳腺癌筛查。
