The Panorama of Cancer Genetics.

The Panorama of Cancer Genetics.
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DOI:
10.1158/0008-5472.can-21-0885
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发表时间:
2021-05-15
期刊:
影响因子:
11.2
通讯作者:
Bader JS
Bader JS
中科院分区:
医学1区
文献类型:
--
作者:
Bader JS

文献摘要

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癌症是一种基因组疾病,由生殖系易感变异和获得性体细胞突变的组合引起。遗传和获得性遗传因素的统一观点将提高我们对癌症发生和进展的理解。Fanfani,Stracquadanio及其同事通过一种计算方法对遗传性癌症风险提供了新的见解,该方法确定了对癌症遗传性有很大贡献的基因和位点;其中许多位点也含有体细胞驱动因子。除了改善癌症临床结果外,这些方法还将通过确定负责缺失遗传性的区域来对复杂疾病进行评估。
Cancer, a disease of the genome, is caused by a combination of germ-line predisposing variants and acquired somatic mutations. A unified view of heritable and acquired genetic factors will improve our understanding of cancer occurrence and progression. Fanfani, Stracquadanio, and coworkers provide new insight into heritable cancer risk through a computational method that identifies genes and loci that contribute strongly to cancer heritability; many of these loci also harbor somatic drivers. Beyond improving cancer clinical outcomes, these methods will also be valuable across complex disorders by identifying regions responsible for missing heritability.