通过遗传性癌症小组检测到的不常见变体以及对遗传咨询的建议
Zeynep Özdemir1, Ezgi Çevik1, Ömür Berna Çakmak Öksüzoğlu2
1Ankara Etlik City Hospital, Department of Medical Genetics, Ankara, Turkiye.
Mutation research
|July 15, 2023
概括
下一代测序在13.7%具有遗传性癌症倾向的个体中发现了致病变体. 这项研究强调了土耳其人口中罕见基因突变的流行,有助于个性化遗传咨询.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 遗传性癌症综合征占所有癌症病例的5-10%.
- 下一代测序 (NGS) 能够同时分析与遗传性癌症相关的多个基因.
- 了解基因变异的流行率和谱系对于风险评估和管理至关重要.
研究的目的:
- 使用NGS确定遗传性癌症综合征引起基因的流行率和变异谱.
- 在怀疑遗传性癌症倾向的个体中调查罕见的基因突变.
- 分析已识别的罕见变异的基因型-表型相关性.
主要方法:
- 通过使用NGS面板 (Sophia遗传癌症解决方案v1.1和Qiagen大遗传癌症面板) 分析了1254名具有家族癌症倾向的个人.
- 排除了46名患有BRCA1/2变异的患者,以专注于罕见突变.
- 根据ACMG/AMP指南使用Sophia DDM和QIAGEN临床洞察力 (QCITM) 分析软件进行分类的基因组改变.
主要成果:
- 在1254名患者中有172名 (13.7%) 发现了致病性/可能致病性变体.
- 在没有BRCA1/2变异的126名患者中,受影响最频繁的基因是MUTYH (2.1%),MMR基因 (2%) 和ATM (2%).
- 确定了11种新的变异,并检查了基因型-表型相关性.
结论:
- 这项研究为土耳其人口中罕见的遗传变异提供了宝贵的见解.
- 这些发现有助于为具有遗传风险的个体提供个性化治疗策略和遗传咨询.
- NGS小组测试有效地识别了广泛的遗传性癌症相关基因突变.
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