通过自我报告的祖先在卵巢癌患者中的致病性生殖系变异:商业实验室协作研究注册研究的商业实验室研究
Chinmayi Aryasomayajula1, Caitlin R Johnson2, Alex A Francoeur3
1University of California, Los Angeles, Los Angeles, CA, USA.
Gynecologic oncology
|November 13, 2025
概括
生殖系致病变体 (gPVs) 在16.1%的卵巢癌患者中被发现,支持通用遗传检测. 阿什基纳兹犹太,西班牙裔和亚洲血统的高发病率凸显了对包容性查策略的需求.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 人口健康 人口健康
背景情况:
- 卵巢癌 (OC) 是一种致命的恶性瘤,15-20%的病例与同源重组 (HR) 或不匹配修复基因的生殖系致病变体 (gPV) 有关.
- 了解这些gPV在不同祖先中的分布对于有效的查和治疗策略至关重要.
研究的目的:
- 根据自我识别的祖先来描述卵巢癌患者的生殖基因格局.
- 为了确定HR和林奇综合征 (LS) 相关基因在不同祖先群体中的gPVs的患病率.
主要方法:
- 分析了Myriad协作研究注册表中84,396名上皮卵巢癌患者的生殖线测试数据.
- 计算整体gPV率,并按自我报告的祖先分层计算 (白人,西班牙裔,黑人,阿什基纳兹犹太人,亚洲人,其他).
主要成果:
- 总体而言,OC患者中有16.1%患有gPV,阿什基纳兹犹太人 (24.4%),西班牙裔 (18.8%) 和亚洲人 (17.4%) 群体的患病率最高.
- 主要在BRCA1 / 2中,同源重组基因 (HR) gPVs在13.8%的患者中被发现,阿什基纳兹犹太人 (23.7%) 的比例最高,西班牙裔 (16.8%) 和亚裔 (15.6%) 个体的比例较高.
- 林奇综合征gPV在0.92%的患者中被发现,亚洲人群 (1.3%) 的患病率最高.
结论:
- 卵巢癌患者中16.1%的gPV总流行率支持了普遍的生殖基因检测建议.
- 虽然阿什基纳兹犹太患者的gPV率最高,但西班牙裔和亚洲人群的显著患病率强调了所有卵巢癌患者包容性基因测试策略的重要性.
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