Scientists analyzed the full genetic blueprints of more than 18,000 cancer samples, finding new patterns of mutations that could help doctors provide better, more personalized treatment.
Their study, published Thursday in the journal Science, is not the first to perform such comprehensive “whole genome” analyzes of cancer samples. But no one has ever done so.
“This is the largest cohort in the world. It’s amazing,” said Serena Nik-Zainal from the University of Cambridge, who was part of the team.
Just over 12,200 surgical samples came from patients recruited by the UK’s National Health Service as part of a project to study the whole genomes of people with common cancers and rare diseases. The rest came from existing cancer datasets.
Researchers have been able to analyze so many of them thanks to the same improvements in genetic sequencing technology that have recently enabled scientists to finish decoding the entire human genome – better and more accurate machines.
“We can really start to uncover the underpinnings of the kind of erosive forces that kind of generate cancer,” said Andrew Futreal, a genomic medicine expert at Houston’s MD Anderson Cancer Center, who was not involved in the study. .
Cancer is a disease of the genome, or a complete set of instructions for how cells work, that occurs when changes in a person’s DNA cause cells to grow and divide out of control. In 2020, there were approximately 19 million new cases of cancer worldwide.
For the study, the researchers looked at 19 different types – breast, colorectal, prostate, brain and others – and identified 58 new clues about the causes of cancer called “mutational signatures” that contribute to the development of the disease. They also confirmed 51 of more than 70 previously reported mutation patterns, Nik-Zainal said.
Some arise due to problems in a person’s cells; others are caused by environmental exposures such as ultraviolet rays, tobacco smoke, or chemicals.
Knowing more “helps us understand each person’s cancer more accurately,” which can help guide treatment, Nik-Zainal said.
Genetic sequencing is already being integrated into cancer care as part of the growing trend of personalized medicine, or care based on a patient’s genes and specific disease. Now doctors will have a lot more information to rely on when looking at individual cancers.
To help doctors use this information, researchers have developed a computer algorithm that will allow them to find common mutation patterns and search for rare patterns. Based on a particular pattern, Nik-Zainal said a doctor can suggest a certain course of action, such as getting immunotherapy.
Futreal said the data can also show doctors what tends to happen over time when a patient develops cancer with a certain mutation pattern, helping them to intervene earlier and hopefully stop. the development of the disease in its tracks.
The Associated Press Health and Science Department is supported by the Howard Hughes Medical Institute Department of Science Education. The AP is solely responsible for all content.
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