Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Breast Cancer Res Treat. 2009 Dec;118(3):539-46. doi: 10.1007/s10549-009-0475-1. Epub 2009 Jul 17.
Annual MRI screening is recommended as an adjunct to mammography for BRCA1 and BRCA2 mutation carriers. Prophylactic oophorectomy has been shown to decrease breast cancer risk in BRCA1/2 mutation carriers. Here, we aimed to examine the combined effects of MRI and oophorectomy. For this purpose, 93 BRCA1/2 mutation carriers were screened with yearly mammograms and yearly MRI scans. Study endpoints were defined as date of breast cancer diagnosis, date of prophylactic mastectomy, or date of most recent contact. Of 93 women, with a median age of 47, 80 (86%) had prophylactic oophorectomy. Fifty-one women (55%) had BRCA1 mutations. A total of 283 MRI scans were performed. Eleven breast cancers (9 invasive, 2 ductal carcinoma in situ) were detected in 93 women (12%) with a median follow-up of 3.2 years (incidence 40 per 1,000 person-years). Six cancers were first detected on MRI, three were first detected by mammogram, and two were "interval cancers." All breast cancers occurred in BRCA1 mutation carriers (incidence 67 per 1,000 person-years). Apart from BRCA1 vs. BRCA2 mutation status, there were no other significant predictors of breast cancer incidence. Most invasive breast cancers were estrogen receptor negative (7 of 9) and lymph node negative (7 of 9). There have been no systemic recurrences with a median follow-up of 19 months after cancer diagnosis. Finally, it was concluded that all breast cancers occurred in BRCA1 mutation carriers, in most cases despite oophorectomy. These data suggest that surveillance and prevention strategies may have different outcomes in BRCA1 and BRCA2 mutation carriers.
每年进行 MRI 筛查被推荐作为 BRCA1 和 BRCA2 基因突变携带者的乳房 X 线照相术的辅助手段。预防性卵巢切除术已被证明可降低 BRCA1/2 基因突变携带者的乳腺癌风险。在这里，我们旨在研究 MRI 和卵巢切除术的联合作用。为此，对 93 名 BRCA1/2 基因突变携带者进行了每年的乳房 X 光检查和每年的 MRI 扫描。研究终点定义为乳腺癌诊断日期、预防性乳房切除术日期或最近联系日期。在 93 名中位年龄为 47 岁的女性中，有 80 名（86%）接受了预防性卵巢切除术。51 名女性（55%）有 BRCA1 基因突变。共进行了 283 次 MRI 扫描。在 93 名女性（12%）中发现了 11 例乳腺癌（9 例浸润性癌，2 例导管原位癌），中位随访时间为 3.2 年（发病率为每 1000 人年 40 例）。6 例癌症首次在 MRI 上检测到，3 例首次在乳房 X 光片上检测到，2 例为“间期癌症”。所有乳腺癌均发生在 BRCA1 基因突变携带者中（发病率为每 1000 人年 67 例）。除 BRCA1 与 BRCA2 基因突变状态外，乳腺癌发病率无其他显著预测因素。大多数浸润性乳腺癌雌激素受体阴性（9 例中的 7 例）和淋巴结阴性（9 例中的 7 例）。在癌症诊断后中位随访 19 个月内，无全身复发。最后得出结论，尽管进行了卵巢切除术，但所有乳腺癌均发生在 BRCA1 基因突变携带者中。这些数据表明，监测和预防策略在 BRCA1 和 BRCA2 基因突变携带者中的结果可能不同。
