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

Genome Biology
Rachel RosenthalCharles Swanton

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.

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Citations

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Datasets Mentioned

BETA
EGAS00001000840
EGAS00001000809

Methods Mentioned

BETA
exome sequencing
dissection
deamination

Software Mentioned

WTSI Mutational
deconstructSigs
makePie
Bioconductor
WTSI Signature
R
plotSignatures
WTSI Mutational Signature Framework
WTSI

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