deconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution
Top Cited Papers
Open Access
- 22 February 2016
- journal article
- research article
- Published by Springer Science and Business Media LLC in Genome Biology
- Vol. 17 (1), 1-11
- https://doi.org/10.1186/s13059-016-0893-4
Abstract
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.Keywords
Funding Information
- European Research Council
- Rosetrees Trust
- Medical Research Council
- Cancer Research United Kingdom
- Novo Nordisk UK Research Foundation (16584)
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