The gene RAD51C is a “cancer protection” gene that encodes a protein crucial for DNA repair. Variants in this gene that stop the protein from working are known to increase the risk of breast and ovarian cancer, and in rare cases, can lead to a severe genetic disorder called Fanconi Anaemia. Knowing this, researchers from the Wellcome Sanger Institute and their collaborators investigated RAD51C and uncovered over 3,000 harmful genetic changes that could potentially disrupt its function and increase cancer risk.
The findings are published in the journal in an article titled, “ ,” and paves the way for better risk assessment and more personalized care. By mapping the protein structure, the team also identified crucial surface areas of RAD51C essential for its DNA repair function. The study also revealed the existence of “hypomorphic alleles”—a type of variant that reduces the RAD51C gene’s function without completely disabling it.
These appear to be more common than previously thought and may significantly contribute to breast and ovarian cancer risk. Rebeca Olvera-León, first author of the study at the Wellcome Sanger Institute, said: “This research demonstrates that genetic risk for breast and ovarian cancer isn’t a simple yes-or-no scenario, but exists on a spectrum based on how genetic changes affect protein function. With a more comprehensive understanding of how RAD51C genetic variants contribute to cancer risk, this opens up new possibilities for mor.