基于外体的癌症倾向基因测试可以为具有异质瘤表型的个体提供遗传诊断
Snežana Hinić1, Arjen R Mensenkamp1, Janneke H M Schuurs-Hoeijmakers1
1Department of Human Genetics, Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, Netherlands.
European journal of human genetics : EJHG
|February 20, 2025
概括
整体外因子测序有助于诊断遗传性癌症,通过识别与多种原发性瘤相关的基因中的致病变体. 这种基因测试有助于指导受影响个体的适当监测和治疗.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 多重原发性瘤是遗传性癌症综合征的特征.
- 这些个体的表型异质性使遗传诊断复杂化.
- 准确的基因诊断对于适当的癌症监测和治疗策略至关重要.
研究的目的:
- 为了评估整个外体序列 (WES) 识别癌症倾向基因的致病变体.
- 在65岁之前患有多重初级瘤的个体中确定WES的实用性.
- 为了改善遗传性癌症综合征的遗传诊断.
主要方法:
- 在72名患有多个原发性瘤的个体上进行了全外体测序 (WES).
- 在所有已知的癌症倾向基因中进行了变异优先级.
- 分析包括生殖系致病变体 (gPVs) 和候选变体.
主要成果:
- 在9.7%的个体 (CHEK2,FANCM,NF1,POT1,PTEN) 中发现了生殖系致病变体 (gPV).
- 在4.2%的个体中发现了候选变体 (HOXB13,MAX,RECQL4).
- 通过途径分析确定了一种新型候选基因 (RECQL5).
结论:
- 基于外体的癌症倾向基因测试在识别多种原发性瘤患者的病原体变异方面是有效的.
- 癌症倾向基因中的生殖系致病变体可以呈现出广泛的瘤.
- 通过WES进行遗传诊断可以为个性化癌症管理提供信息.
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