• Otávio Santiago

Largest Study of Cancer WGS Data Uncovers Dozens of New Mutational Signatures


In what is claimed to be the biggest study of its kind, scientists headed by a team at Cambridge University Hospitals (CUH) and the University of Cambridge, have found a “treasure trove” of clues about the causes of cancer. The team, led by Serena Nik-Zainal, MD, PhD, at CUH and the University of Cambridge, carried out whole-genome analysis of more than 12,000 tumors from UK National Health Service (NHS) patients, to identify genetic mutations representing a personal history of the damage and repair processes each patient has been through.


The results, reported in Science (“Substitution mutational signatures in whole-genome-sequence cancers in the U.K. population”) revealed dozens of previously unreported mutational signatures, including tumor-specific rare signatures. Not only do the findings introduce the concept of common versus rare mutational signatures within each cancer type, but also highlight how such insights could be used to enhance personalized cancer treatments and diagnoses.

First author Andrea Degasperi, PhD, a research associate at the University of Cambridge, said, “Whole-genome sequencing gives us a total picture of all the mutations that have contributed to each person’s cancer. With thousands of mutations per cancer, we have unprecedented power to look for commonalities and differences across NHS patients, and in doing so we uncovered 58 new mutational signatures and broadened our knowledge of cancer.”


Worldwide, cancer is the first or second leading cause of mortality before the age of 70, and there were an estimated 19.3 million new cases of cancer worldwide in 2020, and 10 million deaths, the authors wrote. A cancer genome is often a distorted amalgamation of thousands of genetic mutations. Whole-genome sequencing (WGS) technology makes it possible to carry out comprehensive cancer genome analyses, which can uncover characteristic combinations of mutations that have contributed to a particular cancer. These patterns of mutation, or mutational signatures, can describe the mutational processes that led to tumor development.

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