DeconstructSigs：剖析单个肿瘤中的突变过程可区分DNA修复缺陷和癌演变模式。
DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution.
作者信息
Rosenthal Rachel, McGranahan Nicholas, Herrero Javier, Taylor Barry S, Swanton Charles
机构信息
UCL Cancer Institute, CRUK Lung Cancer Centre of Excellence, Paul O'Gorman Building, Huntley Street, London, WC1E 6DD, UK.
The Francis Crick Institute, 44 Lincoln's Inn Fields, London, WC2A 3LY, UK.
出版信息
Genome Biol. 2016 Feb 22;17:31. doi: 10.1186/s13059-016-0893-4.
BACKGROUND
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.
RESULTS
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.
CONCLUSIONS
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.
背景
体细胞突变分析有助于深入了解塑造癌症基因组的突变过程，但目前此类分析需要大量队列。我们开发了deconstructSigs，它能够在单个肿瘤样本中识别突变特征。
结果
应用deconstructSigs可识别出存在DNA修复缺陷的样本，并揭示与鳞状细胞癌相比，食管腺癌中塑造癌症基因组的独特且动态的突变过程。
结论
deconstructSigs使我们有能力定义由环境暴露、DNA修复异常和诱变过程驱动的个体肿瘤中的突变过程，这对精准癌症医学具有重要意义。
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