Genome alteration signatures reflect recurring patterns caused by distinct endogenous or exogenous mutational events during the evolution of cancer. Signatures of single base substitution (SBS) have been extensively studied in different types of cancer, however, signatures of cancer genome copy number alteration (CNA) are still elusive in most cancer types, especially in prostate cancer (PC), which is particularly driven by complex genome alterations. Here, a user-friendly open source bioinformatics tool "sigminer" has been constructed for copy number signature extraction, analysis and visualization. Five copy number signatures are identified from human PC genome with this tool. The underlying driving forces for each signature have been illustrated. Sample clustering based on copy number signature exposure revealed considerable heterogeneity of PC, and copy number signatures show improved PC clinical outcome association when compared with SBS signatures. Copy number signature analyses provide distinct insight into the etiology of PC, and potential biomarkers for PC stratification and prognosis.

中文翻译：

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前列腺癌的拷贝数签名分析揭示了不同的病因和临床结果

基因组改变特征反映了由癌症发展过程中独特的内源性或外源性突变事件引起的重复模式。在不同类型的癌症中已经广泛研究了单碱基取代（SBS）的特征，但是，在大多数癌症类型中，尤其是在前列腺癌（PC）中，癌症基因组拷贝数改变（CNA）的特征仍然难以捉摸。通过复杂的基因组改变。在这里，已经构建了一个用户友好的开源生物信息学工具“ sigminer”，用于拷贝数签名的提取，分析和可视化。使用该工具从人PC基因组中鉴定出五个拷贝数签名。每个签名的潜在驱动力已得到说明。基于拷贝数签名暴露的样本聚类揭示了PC的相当多的异质性，并且与SBS签名相比，拷贝数签名显示出改善的PC临床结果关联性。拷贝数签名分析为PC的病因学以及PC分层和预后的潜在生物标记提供了独特的见解。