[HTML][HTML] DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution

R Rosenthal, N McGranahan, J Herrero, BS Taylor… - Genome biology, 2016 - Springer
Genome biology, 2016Springer
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 …
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.
Springer