Department of Surgery, University of Alabama at Birmingham, Birmingham, Alabama.
WellSpan Breast Care, Chambersburg, Pennsylvania.
J Surg Res. 2020 Dec;256:267-271. doi: 10.1016/j.jss.2020.06.029. Epub 2020 Jul 23.
The University of Alabama at Birmingham Preventative Care Program for Women's Cancer provides genetic testing, risk evaluation, and screening for breast cancer. Women diagnosed with high-risk mutations may opt to undergo active surveillance or prophylactic surgery. This decision requires understanding of the surveillance process and its potential outcomes. In this study, we report specifically on women with non-BRCA1 or BRCA2 mutations.
A retrospective, cross-sectional study was conducted of women enrolled in our program identified as high risk because of non-BRCA mutations. Events regarding genetic mutations, method of detection of suspicious lesions, number of biopsies, results of those biopsies, prophylactic surgery, and cancer diagnosis were collected.
We identified 78 patients with asymptomatic non-BRCA deleterious mutations. Sixteen mutations were identified, with the most common being ATM, CHEK2, and PALB2. In total, 11.5% underwent prophylactic surgery and 88.5% underwent active surveillance. In the surveillance group, 63.8% had no examination or imaging to warrant biopsy, 24.6% had biopsy with benign result, and 11.6% had biopsy with malignant result. For the nine women who developed breast cancer during surveillance, six were diagnosed with ductal carcinoma in situ, two with stage I, and one with stage IIA cancer.
Women with non-BRCA mutations enroll in prevention clinics with hopes of early detection of breast cancer. Because of increased screening, this population undergoes biopsy more frequently; however, during surveillance most do not require a biopsy. For those that do, the result is typically benign. This information can further allow women to make informed decisions about surveillance and establish realistic expectations regarding the likelihood of tissue sampling.
阿拉巴马大学伯明翰分校妇女癌症预防护理计划提供基因检测、风险评估和乳腺癌筛查。被诊断出携带高风险突变的女性可以选择进行主动监测或预防性手术。这一决策需要了解监测过程及其潜在结果。在这项研究中，我们特别报告了非 BRCA1 或 BRCA2 突变的女性。
对我们计划中因非 BRCA 突变而被确定为高危的女性进行了回顾性、横断面研究。收集了有关基因突变、可疑病变检测方法、活检数量、活检结果、预防性手术和癌症诊断的信息。
我们确定了 78 名无症状非 BRCA 有害突变的女性。共发现 16 种突变，最常见的是 ATM、CHEK2 和 PALB2。总共有 11.5%的女性接受了预防性手术，88.5%的女性接受了主动监测。在监测组中，63.8%的女性没有检查或影像学检查需要进行活检，24.6%的女性活检结果为良性，11.6%的女性活检结果为恶性。在 9 名在监测期间患上乳腺癌的女性中，有 6 名被诊断为导管原位癌，2 名患有 I 期乳腺癌，1 名患有 IIA 期乳腺癌。
非 BRCA 突变的女性参加预防诊所，希望早期发现乳腺癌。由于增加了筛查，这一人群接受活检的频率更高；然而，在监测期间，大多数女性不需要活检。对于那些需要活检的人，结果通常是良性的。这些信息可以进一步帮助女性对监测做出明智的决策，并对组织取样的可能性建立现实的预期。
