使用基于下一代测序的多基因癌症小组识别泰国结直肠癌患者的基因组变化
Worapoj Jinda1, Hathaiwan Moungthard2, Chanin Limwongse3
1Division of Research and Technology Assessment, National Cancer Institute, Bangkok, THA.
Cureus
|June 16, 2023
概括
这项研究使用下一代测序在泰国结直肠癌 (CRC) 患者中发现了显著的遗传变异. 这些发现突显了特定基因突变的流行,强调了多基因面板测试对CRC的实用性.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 结肠直肠癌 (CRC) 仍然是全球主要的健康问题.
- 虽然CRC发病率整体下降,但在50岁以下的人群中,CRC发病率正在增加.
- 许多遗传变异有助于CRC的发展.
研究的目的:
- 研究泰国结直肠癌患者的分子和临床特征.
- 识别与CRC相关的基因中的致病变体.
- 在这个人群中评估多基因癌症面板测序的实用性.
主要方法:
- 基于下一代测序 (NGS) 的多基因癌症小组测试对21名与泰国无关的CRC患者进行了测试.
- 一个定制的Ion AmpliSeq面板分析了36个与CRC相关的基因.
- 变体检测包括无意义,错误,删除和重复突变.
主要成果:
- 在12名患者的9个基因中发现了16种变异.
- 8名患者 (66.7%) 具有关键基因的有害变异,如APC,ATM,BRCA2,MSH2和MUTYH.
- APC是最常见的致病基因,与之前的研究一致.
结论:
- 多基因癌症面板测序对于检测泰国CRC患者的病原性基因是有益的.
- 这项研究揭示了这一队列中遗传异常的显著流行率.
- 综合的分子和临床表征有助于理解CRC异质性.
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