Learn More About Cancer Genetics and Targeted Treatments

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Researchers looked at 19 different types – breast, colorectal, prostate, brain and others – and identified 58 new clues to the causes of cancer

Scientists have analysed the complete genetic blueprints of over 18,000 cancer samples and discovered new mutation patterns that could allow doctors to provide more tailored, better-suited treatment.

Their study, published Thursday in the journal Science, isn’t the first to do such comprehensive “whole genome” analyses of cancer samples. However, no one has done this many.

“This is the largest cohort in the world. It is extraordinary,” said Serena Nik-Zainal of the University of Cambridge, who was part of the team.

A little over 12200 surgical specimens were taken from patients from the U.K. National Health Service. This was part of a study to examine whole genomes for people with common and rare cancers. Rest of the data came from existing cancer data.

Researchers were able to analyze such a large number because of the same improvements in genetic sequencing technology that recently allowed scientists to finally finish decoding the entire human genome – more capable, accurate machines.

“We can really begin to tease out the underpinnings of the erosive sort of forces that go to sort of generate cancer,” said Andrew Futreal, a genomic medicine expert at MD Anderson Cancer Center in Houston who was not involved in the study.

Cancer is a disease of the genome, or full set of instructions for running cells, that occurs when changes in a person’s DNA cause cells to grow and divide uncontrollably. Worldwide, there were approximately 19 million cases of cancer in 2020.

For the study, researchers looked at 19 different types – breast, colorectal, prostate, brain and others – and identified 58 new clues to the causes of cancer called “mutational signatures” that contribute to the development of the disease. Nik-Zainal stated that they confirmed 51 of the more than 70 previously identified mutation patterns.

Some arise because of problems within a person’s cells; others are sparked by environmental exposures such as ultraviolet radiation, tobacco smoke or chemicals.

Knowing more of them “helps us to understand each person’s cancer more precisely,” which can help guide treatment, Nik-Zainal said.

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