在一个种族多样化的夏威夷人群中利用基因检测和外科手术的含义
Amelia Wong1, Saskia Leonard2, Katlyn An2
1Surgery, University of Hawai'i John A. Burns School of Medicine.
Hawai'i journal of health & social welfare
|January 22, 2026
概括
在夏威夷,在患有乳腺癌的年轻女性中,基因检测是常见的. 不知意义的变异 (VUS) 很常见,影响了手术选择,而致病突变因种族而异.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 手术瘤学手术瘤学
背景情况:
- 建议对被诊断患有乳腺癌的年轻女性进行基因检测.
- 不知意义的变异 (VUS) 在种族/族裔少数群体中更常见,但来自夏威夷多元化人口的数据缺乏.
- 临床指南并没有根据VUS发现标准化基于手术的决定.
研究的目的:
- 检查在夏威夷乳腺癌的年轻女性中使用基因测试的情况.
- 评估基因检测结果对外科手术实践模式的影响.
- 评估基因检测结果中的种族差异.
主要方法:
- 在霍诺卢卢的一所机构对被诊断患有乳腺癌的45岁以下妇女 (2016-2020) 的回顾性图表审查.
- 提取的数据包括种族,癌症史,遗传变异和手术干预.
- 进行了统计分析,以确定测试的预测因素和发现与手术选择之间的关联.
主要成果:
- 在236名患者中,85.2%接受了基因检测;家族史预测了检测.
- 不知意义的变异 (VUS) 是最常见的发现 (47.2%),没有种族差异.
- 致病突变在"其他"族群 (非亚洲人/非NHPI) 中更为普遍. 患有VUS的患者更有可能进行部分或单侧乳腺切除术,无论瘤的阶段如何.
结论:
- 在这个种族多样化的乳腺癌年轻女性队列中,观察到高基因测试利用率.
- 对于致病突变,存在种族差异,VUS的患病率很高.
- 这种VUS的高发病率强调了在不同人群中进行基因测试的必要性,并进一步研究其对手术决策的临床影响.
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