The Francis Crick InstituteJul 5 2024
In research published today in Nature Genetics, researchers at the Crick used a new method called saturation genome editing1 to track the function of over 2,000 different VHL variants in human cells over time. The most harmful variants caused the cells to die. The team found that the faulty VHL gene increased the activity of another gene called HIF. This gene is needed to help cells survive in low oxygen, but too much HIF protein can cause tumours.
Finally, the researchers compared their scoring system with publicly available databases on kidney cancer, finding that their method could predict cancer-causing variants previously identified in the clinic with 100% accuracy.
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