Examine mine cancer genetics to help with targeted treatment

Researchers have analyzed the full genetic drawings of more than 18,000 cancer samples and found new patterns of mutations that can help doctors provide better and more personalized treatment.

Their study, published Thursday in the journal Science, is not the first to make such comprehensive “whole genome” analyzes of cancer samples. But no one has ever done so many.

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

Just over 12,200 surgical specimens came from patients recruited from the UK National Health Service as part of a project to study whole genomes from people with common cancers and rare diseases. The rest came from existing cancer datasets.

Scientists were able to analyze such a large number due to the same improvements in genetic sequencing technology that recently enabled scientists to finally finish decoding the entire human genome More skilled, precise machines.

“We can really start teasing the basis of the erosive kind of forces that go into creating cancer,” said Andrew Futreal, a genomic medicine expert at the MD Anderson Cancer Center in Houston who was not involved in the study.

Cancer is a disease of the genome, or a complete set of instructions to drive cells that occurs when changes in a person’s DNA cause cells to grow and divide uncontrollably. By 2020, there were about 19 million new cancer cases worldwide.

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 “mutation 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 occur due to problems in a person’s cells; others are triggered by environmental exposures such as ultraviolet radiation, tobacco smoke or chemicals.

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

Genetic sequencing is already being woven into cancer treatment as part of the growing trend toward personalized medicine or care based on a patient’s genes and specific disease. Now doctors want a lot more information to draw on when looking at individual cancers.

To help physicians use this information, researchers developed a computer algorithm that would allow them to find common mutation patterns and seek out rare ones. Based on a specific pattern, Nik-Zainal said a doctor may suggest a specific approach, such as getting immunotherapy.

Futreal said the data could also show doctors what tends to happen over time when a patient develops a cancer with a specific mutation pattern – helping them intervene earlier and hopefully stop the developing disease in its tracks.


The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institutes Department of Science Education. AP is solely responsible for all content.

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