乳腺活检和乳腺癌风险在以色列BRCA生殖系病原性变体携带者
Dana Madorsky Feldman1, Miri Sklair-Levy1,2,3, Yael Laitman4
1Meirav High-Risk Clinic, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.
Breast cancer research and treatment
|July 22, 2025
概括
对于BRCA1/2携带者,更多的乳腺活检和BRCA1致病变体 (PVs) 与更高的乳腺癌 (BC) 风险相关. 纤维腺瘤诊断似乎不会增加这个高风险组的BC风险.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 病理学 病理学 病理学
背景情况:
- 良性乳腺疾病 (BBD) 具有增殖性变化是已知的乳腺癌 (BC) 风险因素在平均风险的妇女.
- 关于高风险个体,特别是BRCA1和BRCA2致病变体 (PV) 携带者,与BBD相关的BC风险的数据有限.
研究的目的:
- 为了研究良性乳腺疾病 (BBD) 和乳腺癌 (BC) 风险在高风险BRCA1和BRCA2致病变体 (PV) 携带者之间的关联.
- 评估活检数量和特定BBD诊断对该队列内的BC风险的影响.
主要方法:
- 在2011年5月至2024年12月期间对1466名女性BRCA1和BRCA2PV携带者进行了追溯分析.
- 数据收集包括医院内乳腺活检,统计分析采用千平方测试,曼-惠特尼U测试和后勤回归.
- 进行了相关性分析,以评估活检史,BBD诊断和BC发展之间的关系.
主要成果:
- 超过10,113名女性/年,454名参与者进行了1453次活检;16.6%的结果是恶性瘤.
- 随着较多的良性活检和较老的BRCA1PV载体,观察到BC率的增加.
- 在这个队列中,纤维腺瘤诊断似乎没有提高BC风险.
结论:
- 在BRCA PV携带者中,乳腺活检的频率和BRCA1 PV状态与患BC的风险增加有关.
- 纤维腺瘤诊断似乎不会导致BRCA PV载体的BC风险升高.
- 进一步验证这些初步发现对于临床风险评估至关重要.
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