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全基因组测序完成了林奇综合征患者的分子遗传测试工作流程

Klaudia Horti-Oravecz^1,2,3, Anikó Bozsik^1,3,4, Tímea Pócza¹

¹Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.

NPJ genomic medicine

|January 18, 2025

概括

多基因小组测试错过了林奇综合征变体. 全基因组测序 (WGS) 可以使用新的优先级工作流来找到这些非编码的致病变体 (PV),以改善遗传诊断.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.

背景情况:

多基因小组测试 (MGPTs) 改善了林奇综合征 (LS) 的诊断.
非编码的致病变体 (PVs) 经常被MGPT遗漏,需要补充的方法,如全基因组测序 (WGS).

研究的目的:

提出一种基于DNA,RNA和瘤组织的WGS优先级工作流程,用于在MGPT结果为负的患者中进行LS诊断.
识别LS相关的PV,包括非编码变体,这些变体无法通过标准MGPT检测.

主要方法:

开发并应用了WGS优先级工作流程来进行LS诊断.
招募了100名疑似LS和负MGPT结果的患者.
利用DNA,RNA和瘤组织数据来选择WGS的样本.

主要成果:

在该队列中,MGPT检测到28个简单的和3个复杂的PV.
在WGS优先级工作流中,在MGPT阴性患者中发现了一种致病性生殖系深度内在MLH1变异.
功能性研究证实了确定的MLH1变种的致病性.
观察到反复复杂的PV和MLH1深内内PV.

结论:

开发的WGS优先级工作流程有效地识别了MGPT错过的LS相关的PV.
这种工作流提供了一种简单且具有成本效益的方法,可以将WGS整合到LS遗传诊断中.
这些发现强调了WGS在LS中检测非编码PV的重要性.

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