Recent research has identified thousands of genetic variants in the RAD51C gene, once thought to protect against cancer, that may actually increase an individual’s risk of developing breast and ovarian cancers. This groundbreaking discovery, led by scientists from the Wellcome Sanger Institute, highlights how certain changes in this gene could significantly elevate cancer risks, especially in those with a family history of the disease.
RAD51C and Its Role in DNA Repair
The RAD51C gene is essential for DNA repair, acting as a safeguard against cellular mutations that can lead to cancer. When this gene functions properly, it helps to prevent harmful genetic changes. However, the new study found that over 3,000 genetic variants of RAD51C disrupt this vital repair mechanism, increasing the risk of breast cancer fourfold and ovarian cancer sixfold. The study analyzed vast health databases and validated the connection between these harmful variants and cancer diagnoses.
Implications for Cancer Risk Assessment
Women with a faulty RAD51C gene now face a lifetime risk of developing breast cancer ranging from 15% to 30% and a 10% to 15% risk of developing ovarian cancer. These findings underscore the importance of more personalized cancer risk assessments, especially for individuals with a strong family history of these cancers.
A New Era in Precision Medicine
The study offers a new approach to understanding genetic risk, paving the way for individualized treatment strategies. Scientists also identified specific regions of the RAD51C protein critical for its function, offering potential new drug targets and treatment opportunities. This breakthrough could revolutionize how medical professionals and diagnostic labs assess cancer risk, particularly for patients with RAD51C mutations.
Researchers believe this large-scale analysis of genetic variants is just the beginning. The hope is to extend this technique to other genes, aiming to cover the entire human genome in the coming decade.