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

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.

journal_name

Genome Biol

journal_title

Genome biology

authors

Rosenthal R,McGranahan N,Herrero J,Taylor BS,Swanton C

doi

10.1186/s13059-016-0893-4

subject

Has Abstract

pub_date

2016-02-22 00:00:00

pages

31

eissn

1474-7596

issn

1474-760X

pii

10.1186/s13059-016-0893-4

journal_volume

17

pub_type

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