articleGenome biologyFeb 22, 2016GOLD OA

deconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution

The Honourable Society of Lincoln's Inn · CRUK Lung Cancer Centre of Excellence · +4 more institutions

PubMed
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Abstract

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.

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Funding