Scientists evaluated the complete genetic blueprints of over 18,000 cancer samples, uncovering novel mutation patterns that could aid doctors in providing better, more tailored treatment.
Their research, published in the journal Science on Thursday, isn’t the first to do such an in-depth “whole genome” analysis of cancer samples. No one, however, has ever done so many.
“This is the world’s largest cohort.” Serena Nik-Zainal of the University of Cambridge, who was part of the team, described it as “amazing.”
According to US News, patients from the United Kingdom’s National Health Service were recruited as part of a project to investigate entire genomes of people with common malignancies and unusual disorders. The rest was taken from publicly available cancer data collections.
Researchers were able to examine such a significant number because of advancements in genetic sequencing technology, which recently enabled scientists to complete the decoding of the entire human genome through more powerful, precise machines.
“We can start to tease out the roots of the erosive factors that generate cancer,” she says. Andrew Futreal, a genomic medicine researcher at MD Anderson Cancer Center in Houston who was not involved in the research, agreed.
Cancer is a disease of the genome, or the complete set of instructions for running cells, that arises when mutations in a person’s DNA cause uncontrollable cell growth and division. There will be around 19 million new cancer cases worldwide in 2020.
Researchers looked at 19 different forms of cancer – breast, colorectal, prostate, brain, and others – and discovered 58 new “mutational signatures,” which are fresh clues to the causes of cancer “that contribute to the disease’s progression. According to Nik-Zainal, they confirmed 51 of the more than 70 previously reported mutation patterns.
Some are caused by issues within a person’s cells, while others are triggered by external factors like ultraviolet light, tobacco smoke, or toxins.
According to Nik-Zainal, knowing more about them “assists us in better understanding each person’s cancer,” which can help guide treatment.
Genetic sequencing is already being woven into cancer care due to the expanding trend of customized medicine or care based on a patient’s genes and other specific conditions. When doctors examine particular cancers, they will now have more information to work with.
To aid clinicians in their use of this data, researchers created a computer system that will allow them to look for frequent mutation patterns and unique mutation patterns. According to Nik-Zainal, a doctor may recommend a specific course of action, such as immunotherapy, based on a particular pattern.
According to Futreal, the data can also show clinicians what happens over time when a patient gets cancer with a specific mutation pattern, allowing them to intervene earlier and potentially stop the disease from progressing.