Health

Breakthrough Tool Identifies Cancer Tumors with Defective DNA Repair

2025-04-16

Author: Jia

A Revolutionary Step in Cancer Detection

In a stunning advancement in cancer research, scientists from the University of Cambridge and the NIHR Cambridge Biomedical Research Centre have unveiled a groundbreaking algorithm called PRRDetect. This innovative tool is designed to detect cancer tumors that possess faulty DNA repair systems, a discovery that could significantly change how medical professionals predict treatment responses in patients.

Unlocking the Secrets of DNA

Researchers meticulously analyzed the DNA sequences of 4,775 tumors across seven different cancer types, utilizing comprehensive data from Genomics England's 100,000 Genomes Project. By pinpointing unique patterns created by indel mutations—where DNA sequences have letters added or removed—they identified tumors with a specific type of dysfunction known as post-replicative repair dysfunction (PRRd). This pivotal data allowed them to develop the PRRDetect algorithm effectively.

The Expert's Insight

Leading this innovative research, Professor Serena Nik-Zainal, a prominent figure in Genomic Medicine and Bioinformatics, stated, "Genomic sequencing has become significantly faster and more affordable, moving us closer to routine tumor sequencing akin to standard scans or blood tests. To harness genomics in clinical settings, reliable tools like PRRDetect are crucial for forecasting how a tumor may react to treatments, particularly in more aggressive cancers such as lung and brain cancers."

Tailoring Treatment for Better Outcomes

Cancers exhibiting PRRd are shown to be more receptive to immunotherapy, which leverages the body’s immune system to combat cancer cells. In their analysis, researchers discovered 37 distinct patterns of indel mutations in the tumors studied. Notably, these included ten patterns associated with known carcinogens like smoking and UV exposure, and eight specifically linked to PRRd.

Pioneering the Future of Personalized Cancer Therapy

According to Dr. Iain Foulkes, Executive Director of Research and Innovation at Cancer Research UK, "Genomic medicine is set to transform how we tackle cancer treatment. The streamlined access to detailed tumor DNA sequences provides invaluable insight into the lifecycle of an individual’s cancer, opening the door to personalized treatment regimes that could enable more patients to enjoy longer and healthier lives, free from the specter of cancer."

A Collaborative Effort for Healthier Futures

In addressing the pressing issue of cancer, Professor Mike Lewis, NIHR Scientific Director, emphasized the significance of this research. He remarked, "Cancer remains one of the leading causes of mortality in the UK, making the development of tools like PRRDetect vital for determining therapies that enhance the likelihood of successful treatment. The NIHR’s commitment to advancing cancer research, in collaboration with partners such as Cancer Research UK, is paving the way for improved health outcomes and extended lifespans for patients."