Scientists from the University of Cambridge have developed a new tool that works like a “metal detector” for cancer.
This clever algorithm, called PRRDetect, can find certain types of tumors that are easier to treat, especially with a type of medicine called immunotherapy.
The study, published in Nature Genetics, used DNA data from nearly 5,000 tumors, taken from seven different types of cancer.
The researchers used information from the UK’s 100,000 Genomes Project, which collected genetic data from thousands of cancer patients.
By studying changes in DNA—specifically small changes where letters are added or removed (called “indel” mutations)—the scientists noticed unusual patterns in tumors that have a problem repairing their DNA.
These tumors are said to have post-replicative repair dysfunction (PRRd), meaning they can’t fix their DNA properly after it’s been copied. The new algorithm can spot these PRRd tumors in full DNA sequences.
What’s exciting is that PRRd tumors respond better to immunotherapy, a treatment that helps the body’s immune system fight cancer. So, PRRDetect could help doctors find the patients who are most likely to benefit from this treatment.
Professor Serena Nik-Zainal, the lead author of the study, explained that this tool could one day be used in everyday hospitals to personalize treatment for cancer patients. She said that getting a tumor’s DNA tested might soon become as routine as getting a scan or a blood test.
This discovery builds on previous work by the same team, which looked at thousands of cancer genomes like an “archaeological dig” to uncover hidden patterns of mutations. This time, they focused on cancers that often have PRRd, including brain, lung, bowel, bladder, stomach, skin, and endometrial cancers.
The researchers identified 37 different patterns of indel mutations. Ten were already known to be caused by things like smoking or UV light. Eight were linked to PRRd. The remaining 19 were new and may be tied to causes of cancer we don’t yet understand.
Experts say this research is a big step toward more personalized cancer treatment. Dr. Iain Foulkes from Cancer Research UK said tools like PRRDetect bring us closer to a future where more patients get the right treatment for their specific type of cancer, helping them live longer and healthier lives.
Other leaders in health and research, including the National Institute for Health and Care Research and Genomics England, praised the study as a powerful example of how genomics can improve cancer care across the UK and beyond.
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