In women, breast cancer is the most commonly diagnosed cancer and the leading cause of cancer-related deaths. The study focused on specific mutations in the PALB2 and CHEK2 genes, the two most common high-risk breast cancer mutations in the Finnish population. The researchers determined for the individuals what is known as a polygenic risk score, which sums up a number of genetic risk factors associated with breast cancer risk. In fact, an exceptionally high polygenic risk score, with similar impact, underlies the breast cancer risk of many families. The research group considers the utilisation of polygenic risk information a promising tool on the path towards an increasingly comprehensive risk assessment for breast cancer.
