在21种瘤类型中发现和和癌症基因的分析
Michael S Lawrence1, Petar Stojanov2, Craig H Mermel3
1Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
Nature
|January 7, 2014
概括
对人类癌症的大规模基因组分析确定了已知的癌症基因和33个新的显著突变基因. 更多样本的进一步研究将揭示更多的癌症基因,指导未来的癌症基因组学研究.
科学领域:
- 基因组学就是基因组学.
- 癌症生物学 癌症生物学
- 生物信息学是一种生物信息学.
背景情况:
- 大多数癌症基因在瘤中以中间频率 (2-20%) 发生突变.
- 识别所有致癌基因对于全面的癌症基因组学至关重要.
研究的目的:
- 评估创建一个全面的癌症基因目录的可行性.
- 通过大规模的基因组分析识别新的癌症基因.
主要方法:
- 在外体序列中对体点突变的分析.
- 研究了21种癌症类型中的4742种人类癌症,并与正常组织样本相匹配.
- 利用下方采样分析来预测未来的基因发现.
主要成果:
- 大规模的基因组分析成功地确定了已知的癌症基因.
- 在癌症中发现了33个以前未知的显著突变基因.
- 鉴定了参与增殖,亡,基因组稳定性等方面的基因.
结论:
- 通过大规模的基因组分析,全面的癌症基因编目是可行的.
- 进一步增加样本大小将揭示更多临床相关的癌症基因.
- 结果为下一阶段的癌症基因组学研究提供了基础.
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