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Genome Biol. 2016 Feb 22;17:31. doi: 10.1186/s13059-016-0893-4.

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

Author information

1
UCL Cancer Institute, CRUK Lung Cancer Centre of Excellence, Paul O'Gorman Building, Huntley Street, London, WC1E 6DD, UK.
2
The Francis Crick Institute, 44 Lincoln's Inn Fields, London, WC2A 3LY, UK.
3
UCL Cancer Institute, Bill Lyons Informatics Centre, Paul O'Gorman Building, Huntley Street, London, WC1E 6DD, UK.
4
Centre for Mathematics and Physics in the Life Sciences and Experimental Biology (CoMPLEX), University College London, London, WC1E 6BT, UK.
5
UCL Cancer Institute, Bill Lyons Informatics Centre, Paul O'Gorman Building, Huntley Street, London, WC1E 6DD, UK. javier.herrero@ucl.ac.uk.
6
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA. taylorb@mskcc.org.
7
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA. taylorb@mskcc.org.
8
Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA. taylorb@mskcc.org.
9
UCL Cancer Institute, CRUK Lung Cancer Centre of Excellence, Paul O'Gorman Building, Huntley Street, London, WC1E 6DD, UK. charles.swanton@crick.ac.uk.
10
The Francis Crick Institute, 44 Lincoln's Inn Fields, London, WC2A 3LY, UK. charles.swanton@crick.ac.uk.

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.

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.

PMID:
26899170
PMCID:
PMC4762164
DOI:
10.1186/s13059-016-0893-4
[Indexed for MEDLINE]
Free PMC Article

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