Mechanisms underlying mutational signatures in human cancers.

Helleday T, Eshtad S, Nik-Zainal S

Nat. Rev. Genet. 15 (9) 585-598 [2014-09-00; online 2014-07-01]

The collective somatic mutations observed in a cancer are the outcome of multiple mutagenic processes that have been operative over the lifetime of a patient. Each process leaves a characteristic imprint--a mutational signature--on the cancer genome, which is defined by the type of DNA damage and DNA repair processes that result in base substitutions, insertions and deletions or structural variations. With the advent of whole-genome sequencing, researchers are identifying an increasing array of these signatures. Mutational signatures can be used as a physiological readout of the biological history of a cancer and also have potential use for discerning ongoing mutational processes from historical ones, thus possibly revealing new targets for anticancer therapies.

Affiliated researcher

PubMed 24981601

DOI 10.1038/nrg3729

Crossref 10.1038/nrg3729

pii: nrg3729
pmc: PMC6044419
mid: EMS78534