Reacción a "Reactions to the finding of new combinations of mutations, 'mutational signatures', associated with specific cancers"

Throughout life the cells of our tissues accumulate mutations. These mutations are caused by intrinsic and extrinsic mutational processes, such as tobacco, ultraviolet light and many others. Each of these mutational processes leaves a specific mutational fingerprint or mutational signature. By analyzing the pattern of mutations in tumors, these mutational signatures can be extracted and the mutational processes active in the history of these cancer cells can be identified.

This work, led by professor Serena Nik-Zainal of the University of Cambridge, reports the largest analysis to date to extract mutational signatures in human cancers. To do this, they analyzed 12,220 whole genome sequenced tumors from patients recruited from the UK National Health Services (NHS) under the Genomics England 100,000 Genomes project. Analysis of these cancer genomes confirms known mutational signatures and identifies new ones.

The study is comprehensive and rigorous, and provides a useful resource with all identified mutational signatures and their characteristics. In practical terms, it provides a framework for identifying mutational signatures in newly sequenced tumor samples to gain insight into the intrinsic and environmental exposures to which these cells have been exposed. In some cases, this information has clinical implications for personalized cancer treatment and/or diagnosis.