"Science" accurately maps tumor genome libraries

By screening the genomes of more than 12,000 tumors for hundreds of millions of hidden mutations, researchers have uncovered patterns of DNA changes that could provide clues to the genetic and environmental causes of cancer

The study, published April 21 in the journal Science , is the largest of its kind

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Size matters for these analyses, says Núria López-Bigas, a computational cancer biologist at the Institute for Biomedical Research in Barcelona, ​​Spain

Mutant footprint

A single cancer cell may contain hundreds of thousands of mutations, sometimes more than a million, but only a few of them lead directly to tumor development

Many of the remaining "bystander" mutations can also be informative

These mutational patterns can be likened to footprints in the sand, said Serena Nik-Zainal, a computational biologist at the University of Cambridge, UK, and co-author of the Science

The largest previously reported study on mutational signatures, published in 2020, analyzed approximately 5,000 whole-genome sequences from tumor samples collected in an international effort

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In the new study, the team analysed more than 12,000 cancer genomes collected by the UK NHS as part of the UK Genomics UK 100,000 Genomes Project

The study, which included samples from 19 tumor types, yielded dozens of previously unknown mutational footprints, some of which could be traced to defects in specific cellular methods of repairing DNA

Dávid Szüts, a cancer biologist at the Centre for Natural Sciences in Budapest, says researchers may have now identified all of the most common mutational signatures

In addition to looking for further mutational signatures, Degasperi hopes to track down more mysterious origins that have not yet been linked to oncogenic events

It is hoped that these studies will eventually lead to individual cancer treatments