在接受遗传性癌症检测的个体中,同时进行DNA和RNA测序的诊断结果
Carolyn Horton1, Lily Hoang1, Heather Zimmermann1
1Ambry Genetics, Aliso Viejo, California.
JAMA oncology
|November 4, 2023
概括
配对DNA和RNA测序通过检测更多引起疾病的变异和解决不确定的变异来改善生殖系遗传测试. 这促进了个性化癌症监测和治疗遗传性癌症倾向的进展.
科学领域:
- 基因组学就是基因组学.
- 在瘤学瘤学.
- 遗传诊断 遗传诊断 遗传诊断 是一种
背景情况:
- 在遗传性癌症倾向中,生殖系遗传检测对于个性化癌症护理至关重要.
- 基因组技术的进步,如RNA测序,可以提高生殖线检测的准确性和产量.
研究的目的:
- 评估DNA和RNA测试的联合使用,以检测引起疾病的生殖系变异.
- 评估配对测试对解决不确定的意义变异 (VUS) 的影响.
主要方法:
- 配对DNA和RNA测序在接受遗传性癌症征兆的生殖线检测的个体上进行.
- 随着时间的推移,分析了变异分类变化及其对癌症风险管理的影响.
主要成果:
- 配对测试发现了新的致病变体,并重新分类了VUS,影响了1.3%的个人.
- 对于分类17.1%的致病拼接变体和解决71.1%的拼接VUS.US.的RNA证据至关重要.
- 观察到种族差异,亚洲人,黑人和西班牙裔人与白人相比,在亚洲人,黑人和西班牙裔人中发现和VUS解决率更高.
结论:
- 同时DNA和RNA测序是生殖系遗传测试的一个重大进步.
- 这种方法改善了新型变异的检测和现有变异的分类,扩大了遗传性癌症的个性化干预机会.
- 这些发现突出了增加对适合量身定制监测和治疗的个人识别的潜力.
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