Polygenic risk scores to refine Breast cancer screening and prevention strategies.

Abstract

Breast cancer (BC) is the world's most prevalent cancer and can affect almost any post-pubertal woman. Early detection is associated with improved survival, and most high-income countries have adopted population-based screening programs to enhance early detection and survival although significant differences in screening age, methodology, and frequency exist. BC is known to be a heritable disease, with a small percentage of women having pathogenic variants in moderate or high-risk genes. However, Polygenic Risk Scores (PRS) incorporate many low penetrance single nucleotide polymorphisms (SNPs) and are the most powerful tool to help stratify women based on their personalized BC risk. PRS are particularly useful if incorporated into established risk prediction models (RPM). Risk stratification using PRS-containing RPMs can guide eligibility for enhanced screening and prevention programmes. This review discusses the role PRS plays in personalized risk prediction screening and prevention approaches as some of the challenges to their use.