Center for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany,
Arch Gynecol Obstet. 2014 Mar;289(3):663-70. doi: 10.1007/s00404-013-3022-6. Epub 2013 Sep 18.
This study aimed at evaluating the efficacy of ultrasound for the early detection of breast cancers in BRCA1/2 mutation carriers.
Between 01/1997 and 10/2008 221 BRCA1/2 mutation carriers participated in a breast cancer screening program which included semi-annual ultrasound in combination with annual mammography and magnetic resonance imaging (MRI). Women underwent on average (median) five semi-annual screening rounds with a range of one to 22 appointments, totaling 1,855 rounds of screening. All three imaging modalities were coded according to the American College of Radiology (BI-RADS classification).
In total, we detected 27 BRCA-associated breast cancers in 25 patients. The sensitivity was 77% for ultrasound, 27% for mammography, and 100% for MRI. Three tumors were detected directly as a result of only the semi-annual ultrasound screen.
Due to the specific tumor morphology and the considerably elevated tumor doubling time, mutation carriers benefit from the addition of semi-annual ultrasound screening as a sensitive and cost-effective method.
本研究旨在评估超声在 BRCA1/2 基因突变携带者早期乳腺癌检测中的应用效果。
1997 年 1 月至 2008 年 10 月，221 名 BRCA1/2 基因突变携带者参加了乳腺癌筛查项目，该项目包括每半年进行一次超声检查，同时结合每年的乳房 X 线摄影术和磁共振成像（MRI）检查。女性平均（中位数）每半年进行五次筛查，范围为一次到 22 次预约，共进行了 1855 轮筛查。所有三种影像学方法均根据美国放射学院（ACR）编码（BI-RADS 分类）。
总共在 25 名患者中发现了 27 例与 BRCA 相关的乳腺癌。超声的灵敏度为 77%，乳房 X 线摄影术为 27%，MRI 为 100%。有三个肿瘤仅通过半年一次的超声筛查直接被发现。
由于特定的肿瘤形态和明显延长的肿瘤倍增时间，突变携带者受益于半年一次的超声筛查，因为它是一种敏感且具有成本效益的方法。
