在非选择的患有病原性APC变体的患者中,腺瘤负担较低
Rachel Schwiter1, Heather Rocha1, Alicia Johns2
1Department of Genomic Health, Geisinger, Danville, PA.
概括
基因组查发现了患有APC变异的个体,但大多数人没有发展多重症. 这表明,通过查发现的家族腺瘤多重症的临床负担较低.
科学领域:
- 遗传学 遗传学 是一个
- 胃肠病学 胃肠病学
- 预防医学 预防医学
背景情况:
- 基因组查有可能改善临床结果.
- 通过基因组查识别出有多重症风险的个体的临床表现尚不清楚.
- 评估基因组查对多重症风险的临床效用需要了解已识别的个体的呈现.
研究的目的:
- 描述在未经选择的医疗保健队列中患有APC致病或可能致病 (P/LP) 变异的个体的临床表现.
- 为基因组查的临床实用性评估提供信息,旨在识别家族腺瘤多重症 (FAP) 风险.
主要方法:
- 通过MyCode程序 (MyCode APC+) 识别APC P/LP变种的个人的电子健康记录进行了审查.
- 在MyCode APC+个体中评估腺瘤负担.
- 在MyCode APC+个体和匹配的变异阴性对照组之间比较腺瘤负担,包括具有临床FAP诊断的人.
主要成果:
- 在医疗保健队列中,APC P/LP 变种的患病率估计为 2800 个中的 1 个.
- 确定了24名MyCode APC+个体;结果披露时的中位数年龄为53岁.
- 临床多重症的发生率为8%;具有经典区域变异的个体有多重症,而具有减弱区域变异的个体没有. 与对照组相比,MyCode APC+参与者在累积腺瘤计数上没有差异.
结论:
- 在MyCode队列中,APC P/LP变异的估计流行率超过了先前公布的率.
- 通过基因组查发现APC P/LP变异的个体表现出较低的腺瘤负担.
- 需要进一步的研究,才能充分了解FAP风险基因组查的临床影响和实用性.
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