Cases in Precision Medicine: The Role of Polygenic Risk Scores in Breast Cancer Risk Assessment.

Abstract

Polygenic risk scores (PRSs) have been consistently associated with elevated breast cancer risk in cohort studies and are associated with risk in both women with and those without a family history of breast cancer. However, before clinical implementation, several issues must be addressed, including understanding the potential clinical utility and optimal method to communicate personalized screening recommendations that incorporate the PRS. Several trials are under way to answer some of these questions and facilitate clinical implementation. Because these PRSs have been developed in women of European ancestry, it is important to understand the limitations of their predictive ability in other ancestral groups. Finally, the value of the PRS will lie in considering it along with other clinical, familial, and rare genetic factors that are currently used in personalized risk assessment of breast cancer.