Polygenic Risk Score
Much of the heritable risk of breast cancer (breast cancer as a result of family history) remains unexplained. High and moderate penetrance (risk) genes like BRCA1. BRCA2, PALB2, CHEK2 account for less that 25% of the risk in heritable breast cancer.
We have identified single changes in the DNA (called Single Nucleotide Polymorphisms – SNPs) that can alter the risk of developing breast cancer. On their own, SNPs offer a very modest changes in risk. However, put together the have a multiplicative effect and we can now calculated a Polygenic Risk Score (PRS) they can have a significant impact on overall risk.
Mr Basu’s own research investigated the use of SNPs in further defining risk amongst breast cancer patients with a BRCA1 and BRCA2 mutation. His ongoing research as part of the transformation role of the breast services in Birmingham is to try and embed calculation of Polygenic Risk Scores into breast cancer risk assessment in the primary and secondary care setting so that women can have a better idea of their risk of developing breast cancer. The hope is that we can offer risk reduction with a view to preventing a number of breast cancers in the future.