BRCA and beyond: finding younger women with a higher risk of breast cancer

Cancer Research UK researchers have created CanRisk, an online platform that utilizes the BOADICEA algorithm to identify individuals with a higher risk of breast and ovarian cancer. Currently, the tool is primarily recommended for genetics specialists, but early studies suggest it could have wider applications, such as benefiting younger women. A recent study found that offering CanRisk to all women under 50 could help identify many more women at increased risk of breast cancer compared to current guidelines.

The main risk factor for early-onset breast cancer is family history, but only about 3 in 4 women under 50 diagnosed with breast cancer have a family history that would raise concerns. The CanRisk program aims to change this by providing doctors with a tool to identify women at higher risk, regardless of family history. This could allow for earlier monitoring and prevention of the disease.

The journey to developing CanRisk began in the 1990s when Cancer Research UK scientists discovered the BRCA1 and BRCA2 genes, which play a crucial role in DNA repair. These genes are associated with a higher risk of breast cancer. Today, researchers are also working on preventative drugs to lower the risk of BRCA-linked cancers without surgery.

However, the impact of BRCA genes extends beyond just these two genes. Other genetic changes can also influence cancer risk, with some being rare and others being more common. Professor Antonis Antoniou and his team at the University of Cambridge have been at the forefront of identifying these genetic risk factors and developing the BOADICEA tool, which has been expanded through CanRisk to account for multiple risk factors.

The tool has generated over 7.5 million cancer risk scores worldwide and has helped prevent thousands of breast and ovarian cancer deaths.