通过人口数据库分析,估计东亚人和韩国人的PALB2生殖系变异的流行率
Jong Eun Park1, Min-Chae Kang2, Taeheon Lee3
1Department of Laboratory Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri 11923, Republic of Korea.
Cancers
|October 16, 2024
概括
这项研究估计了全球PALB2变种的流行率,在东亚人中发现0.09%,在韩国人中发现0.13%. 这些PALB2基因发现对于了解遗传性癌症风险至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 人口遗传学 人口遗传学
背景情况:
- 这种PALB2基因是一种瘤抑制剂.
- 在PALB2中生殖系致病变体增加了乳腺,卵巢和胰腺癌的风险.
- 对于东亚和韩国人群中PALB2变种流行情况的数据有限.
研究的目的:
- 为了估计PALB2变异的全球流行率.
- 专门分析东亚和韩国人群中PALB2变体的频率.
- 为遗传咨询和遗传性癌症风险管理提供必要的参考数据.
主要方法:
- 从基因组聚合数据库 (gnomAD) 分析了125,748个外体,其中包括9,197个东亚人.
- 包括来自韩国变种档案中的5305个个体和韩国参考基因组数据库中的1722个个体的额外数据.
- 使用美国医学遗传学和基因组学学院和临床基因组资源指南解释了所有PALB2变异.
主要成果:
- 全球PALB2变种的流行率为0.18%,芬兰人 (0.41%) 的发病率最高,亚什肯纳兹犹太人 (0.04%) 的发病率最低.
- 东亚人口的患病率为0.09%.
- 韩国综合人口 (韩国变种档案,韩国参考基因组数据库和gnomAD) 的总体PALB2变种流行率为0.13%.
结论:
- 这是关于东亚和韩国人群中PALB2变种流行率的首次全面研究.
- 这些发现为未来关于PALB2和遗传性癌症的研究提供了关键的参考数据.
- 特定区域的遗传研究对于为遗传咨询和癌症风险管理提供信息至关重要.
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