Polygenic Risk Scores for Breast Cancer

Polygenic risk scores (PRS) for breast cancer (BC) estimate risk based on the cumulative impact of single-nucleotide polymorphisms. This review outlines current data regarding potential applications of breast cancer PRS.

PRS may have use in unaffected and affected individuals and in those with and without germline pathogenic variants. Incorporation of clinical risk factors strengthens estimates. Multi-ancestry PRS have mitigated but not resolved concerns about applicability across ancestry groups.

PRS represents an important, emerging component of BC risk estimation. Research will help inform optimal utilization and communication, as well as clinical and psychological impact.