DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution.
DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution.
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DOI：
10.1186/s13059-016-0893-4
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发表时间：
2016-02-22
期刊：
影响因子：
12.3
通讯作者：
Swanton C
中科院分区：
文献类型：
--
作者：
Rosenthal R;McGranahan N;Herrero J;Taylor BS;Swanton C
对体细胞突变的分析提供了对形成癌症基因组的突变过程的深入了解，但这种分析目前需要大量的队列。我们开发了deconstructSigs，它允许在单个肿瘤样本中识别突变特征。应用deconstructSigs鉴定具有DNA修复缺陷的样品，并揭示与鳞状细胞癌相比，在食管腺癌中塑造癌症基因组的独特和动态的突变过程。解构Sigs赋予了定义由环境暴露、DNA修复异常和个体肿瘤中的诱变过程驱动的突变过程的能力，这对精确的癌症医学具有意义。本文的在线版本（doi：10.1186/s13059-016-0893-4）包含补充材料，可供授权用户使用。
Analysis of somatic mutations provides insight into the mutational processes that have shaped the cancer genome, but such analysis currently requires large cohorts. We develop deconstructSigs, which allows the identification of mutational signatures within a single tumor sample. Application of deconstructSigs identifies samples with DNA repair deficiencies and reveals distinct and dynamic mutational processes molding the cancer genome in esophageal adenocarcinoma compared to squamous cell carcinomas. deconstructSigs confers the ability to define mutational processes driven by environmental exposures, DNA repair abnormalities, and mutagenic processes in individual tumors with implications for precision cancer medicine. The online version of this article (doi:10.1186/s13059-016-0893-4) contains supplementary material, which is available to authorized users.