基于越南妇女易感基因和多基因风险评分的乳腺癌风险评估
Dao Nguyen Vinh1,2, Thanh Thi Ngoc Nguyen3,4, Tuan-Anh Nguyen Tran1,2
1Medical Genetics Institute, Ho Chi Minh City, Vietnam.
BJC reports
|November 8, 2024
概括
这项研究确定了越南妇女乳腺癌 (BC) 风险的遗传因素,包括遗传性乳腺癌和卵巢癌 (HBOC) 突变和单核酸多态 (SNP). 开发的多基因风险评分 (PRS) 模型可以帮助个性化BC查.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 流行病学 流行病学
背景情况:
- 基于风险评估的个性化乳腺癌查是一种新兴的策略.
- 越南缺乏BC的遗传风险分层.
- 这项研究解决了越南妇女遗传风险评估的需要.
研究的目的:
- 调查与越南妇女乳腺癌相关的遗传因素.
- 为了确定遗传性乳腺和卵巢癌综合征 (HBOC) 的致病变体.
- 为BC风险预测开发一个多基因风险评分 (PRS) 模型.
主要方法:
- 招募了892名BC患者和735名健康的越南妇女.
- 分析了BC患者对HBOC致病变体的分析.
- 基因型为398BC敏感性单核酸多态 (SNPs),并构建了一个PRS模型.
主要成果:
- 在越南BC患者中,HBOC突变的患病率为5.4%.
- 鉴定了36个与BC相关的SNP,与其他亚洲种群基本一致.
- PRS模型显示与BC风险存在显著关联 (OR为上1%的5.09,而下1%的0.21).
结论:
- 这项研究为越南妇女提供了首个关于HBOC,BC敏感性SNP和PRS的大型数据集.
- 这些发现可以为越南的个性化BC查策略的开发提供信息.
- 遗传风险评估可以改善乳腺癌的早期检测和管理.
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