Scientists have pinpointed thousands of genetic changes in a gene that may increase a person's risk of developing breast and ovarian cancer, paving the way for better risk assessment and more personalized care. Researchers from the Wellcome Sanger Institute and their collaborators focused on the 'cancer protection' gene RAD51C , finding over 3,000 harmful genetic changes that could potentially disrupt its function and increase ovarian cancer risk six-fold and risk of aggressive subtypes of breast cancer four-fold. These findings were confirmed by analyzing data from large-scale health databases.
The findings, published today (18 September) in Cell , are freely available so that they can be immediately used to help doctors and diagnostic laboratory scientists better assess cancer risk, especially for individuals with a family history of these cancers, reducing the uncertainty that often accompanies genetic testing. The study also identified regions of the protein essential for its function, pointing to new roles in cancer development and potential therapeutic targets. Breast cancer is the most common cancer in the UK, with around 56,800 new cases every year.
One in seven UK females will be diagnosed with breast cancer in their lifetime. Ovarian cancer is the sixth most common cancer in females in the UK, with around 7,500 new cases every year. The RAD51C gene encodes a protein crucial for DNA repair.
Variants in this gene that stop the protein from working are known to increas.