Scientists have developed a new algorithm that could help doctors identify tumors more likely to respond to specific treatments, potentially paving the way for more personalized and effective care for each patient.
A tool to detect DNA repair flaws in tumors
The tool, called PRRDetect, scans a tumor’s full genetic code to find signs of DNA repair problems. These tumors are often more responsive to therapies such as immunotherapy, which uses the body’s own immune system to fight cancer.
Researchers at the University of Cambridge and the NIHR Cambridge Biomedical Research Centre led the study, published Thursday in Nature Genetics. It analyzed the complete DNA of 4,775 tumors from seven cancer types using data from Genomics England’s 100,000 Genomes Project.
Genomic testing is becoming more routine in clinics
“Genomic sequencing is now far faster and cheaper than ever before,” said Professor Serena Nik-Zainal, lead author and expert in genomic medicine. “We are getting closer to the point where getting your tumor sequenced will be as routine as a scan or blood test.”
Nik-Zainal explained that for genomics to improve clinical care, doctors need tools that deliver useful insights about how a tumor might respond to treatment. This is especially critical in aggressive cancers, such as those affecting the lungs or brain.
How PRRDetect was built and what it identifies
PRRDetect was built after researchers identified a set of mutation patterns called “indels”—small additions or deletions in DNA—linked to faulty repair systems in cancer cells. When these systems fail, tumors are more vulnerable to certain therapies. The algorithm acts like a detector, flagging these specific patterns in a tumor’s genome.
The team found 37 different indel patterns across the cancers studied. Ten of them matched known causes, such as smoking and UV exposure. Eight were linked to DNA repair faults, while 19 were previously unknown.
These newly discovered patterns may point to other cancer causes or errors in how cells behave when they turn cancerous.
Building on earlier cancer genome studies
This latest research builds on earlier work by Nik-Zainal, who led a large-scale analysis of thousands of cancer genomes funded by Cancer Research UK. That study uncovered hidden mutation signatures and laid the groundwork for PRRDetect.
In the current study, researchers focused on cancers more likely to show DNA repair faults, including those of the bowel, brain, womb, skin, lung, bladder and stomach.
The study used genetic data from around 85,000 NHS patients affected by rare diseases or cancer, as part of the 100,000 Genomes Project—a national initiative led by Genomics England and NHS England.
Experts say personalized treatment is the future
Dr. Iain Foulkes, executive director of research and innovation at Cancer Research UK, said tools like PRRDetect are helping to transform cancer care.
“We can now get full readouts of tumor DNA much more easily, and with that comes a wealth of information about how an individual’s cancer can start, grow and spread,” he said. “Personalizing treatment is much more likely to be successful, ensuring more people can live longer, better lives free from the fear of cancer.”
National health leaders welcome the breakthrough
Professor Mike Lewis, scientific director at the National Institute for Health and Care Research (NIHR), called the algorithm a promising step forward.
“Cancer is a leading cause of death in the UK,” he said. “It’s impressive to see our research lead to the creation of a tool to determine which therapy will lead to a higher likelihood of successful cancer treatment.”
Genomic medicine enters everyday healthcare
Professor Matt Brown, chief scientific officer at Genomics England, said the study highlights the growing role of genetics in everyday medicine.
“Genomics is playing an increasingly important role in healthcare and these findings show how genomic data can be used to drive more predictive, preventative care,” Brown said.
“The creation of this algorithm showcases the immense value of whole genome sequencing not only in research but also in the clinic across multiple diverse cancer types in advancing cancer care.”
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