Clinical Applications of Polygenic Breast Cancer Risk

A Critical Review and Perspectives of an Emerging Field

Tatiane Yanes; Mary-Anne Young; Bettina Meiser; Paul A. James


Breast Cancer Res. 2020;21(5) 

In This Article


Significant progress has been made in understating the genetic architecture of breast cancer and the role of polygenic information in familial breast cancer and for population screening programs. The studies presented in this review demonstrate that polygenic information has the power to effectively stratify breast cancer risk. These findings need to be considered in light of current limitations, including limited research on women from non-European ancestry and emphasis of ER-positive breast cancer. Equally, further research is needed to determine the best-performing PRS, with varying number of SNPs and statistical methods being currently used to calculate polygenic risk.[9,42] Despite the current limitations, testing for polygenic risk is already being implemented in specialist familial cancer clinics to provide additional information for at-risk women with uninformative genetic test results, while research is ongoing to assess the clinical utility of PRS for population screening programs.