Cancer mutation signatures, DNA damage mechanisms, and potential clinical implications

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37 Scopus citations


Knowledge of cancer genomic DNA sequences has created unprecedented opportunities for mutation studies. Computational analyses have begun to decipher mutational signatures that identify underlying causes. A recent analysis encompassing 30 cancer types reported 20 distinct mutation signatures, resulting from ultraviolet light, deficiencies in DNA replication and repair, and unexpectedly large contributions from both spontaneous and APOBEC-catalyzed DNA cytosine deamination. Mutational signatures have the potential to become diagnostic, prognostic, and therapeutic biomarkers as well as factors in therapy development.

Original languageEnglish (US)
Article number87
JournalGenome medicine
Issue number9
StatePublished - Sep 27 2013

Bibliographical note

Funding Information:
I thank D Harki for comments and apologize to colleagues whose work could not be cited directly due to bibliography length constraints. The Harris Laboratory is grateful for support from the Minnesota Ovarian Cancer Alliance, V Foundation for Cancer Research, Department of Defense Breast Cancer Research Program (BC121347), and US National Institutes of Health (R01-AI064046 and P01-GM091743).


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