通过基于小组的癌症倾向测试发现的多种可操作的致病性生殖系变异的风险和影响
Catherine Neumann1, Demitrios Dedousis1,2, Michael J Hall1
1Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA.
越来越多地使用多基因面板 (MGP) 识别了更多患有多种致病性生殖系变异 (PGV) 的患者. 这些患者中很大一部分受益于由于多个PGVs而导致的管理变化.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 临床诊断 临床诊断 临床诊断
背景情况:
- 多基因面板 (MGP) 越来越多地用于遗传测试.
- 这导致了多种致病性生殖系变异 (PGV) 的患者识别的增加.
- 了解多个PGV的影响对于患者管理至关重要.
研究的目的:
- 描述多个PGV的患者的情况.
- 确定多个PGV影响患者管理决策的临床环境.
主要方法:
- 用MGP评估的患者的回顾性队列分析.
- 从一个机构的注册表中包含多个PGV的患者.
- 从2014年1月1日到2024年1月1日收集的数据.
主要成果:
- 0.8% (64/7,961) 的患者携带多个PGV.
- 34%的人在高风险或中等风险基因中至少有两个PGV.
- 52%的人患有可能导致管理变化的PGV,其中包括10名患有BRCA1/2和不匹配修复 (MMR) 基因PGV的患者.
结论:
- 虽然不常见,但在接受基因检测的少数患者中,多个PGV被确定.
- 这些患者中的很大一部分可以从改变的医疗管理策略中受益.
- 识别多个PGV对癌症倾向管理具有临床意义.
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