患有不同祖先的子宫内膜癌患者的致病性生殖系变异
Ying L Liu1,2, Sushmita Gordhandas3, Kanika Arora4
1Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Cancer
|October 27, 2023
概括
在子宫内膜癌 (EC) 中,生殖系致病变体 (gPVs) 和遗传咨询率因祖先而异. 黑人/非裔美国人和非洲血统患者的gPV和咨询率最低,这可能会加剧结果差异.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 健康差异 在健康上的差异
背景情况:
- 在子宫内膜癌 (EC) 结果中确立了种族差异.
- 在EC的不同祖先中,生殖系致病变体 (gPVs) 的作用尚不清楚.
研究的目的:
- 研究基于祖先的gPV变异对EC结果的贡献.
- 为了比较EC患者中不同祖先群体的gPV和遗传咨询率.
主要方法:
- 超过76个癌症倾向基因的生殖细胞序列测序在1625名EC患者身上进行.
- 患者根据自我报告的种族/种族和遗传祖先进行分类.
- 在祖先群体中比较了gPV和遗传咨询的比率.
主要成果:
- 在13%的EC患者中发现了gPV,根据祖先有显著的变化 (例如,阿什基纳兹犹太人的20%与黑人/非洲裔美国人的7%).
- 黑人/非裔美国人和非洲血统的患者患gPV的几率较低,而亚什肯纳兹犹太血统的患者与非西班牙裔白人患者相比患gPV的几率更高.
- 在黑人/非裔美国人和非洲血统患者中观察到较低的微卫星不稳定性高瘤率.
- 黑人/非裔美国人 (75%) 和非洲血统 (67%) 患有新发现的gPVs的患者中,基因咨询的接受率最低.
结论:
- 祖先显著影响gPV流行率和子宫内膜癌的遗传咨询率.
- 在黑人/非裔美国人和非洲血统患者中,gPV的较低率和遗传咨询可能会加剧现有的结果差异.
- 这些发现凸显了针对不同人群的癌症预防和治疗需要量身定制的方法.
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