Toward more personalized breast cancer risk assessment: The polygenic risk score

JAAPA. 2023 Oct 1;36(10):37-40. doi: 10.1097/01.JAA.0000977692.63075.f3.

Abstract

Healthcare providers often are uncertain about how best to assess and manage breast cancer risk. Women at average risk wonder when to start mammography and how often to go. Women at increased risk might inquire about genetic testing, MRI screening, and preventive measures. Patients who carry gene mutations face higher stakes and more complex risk management choices, but only some are aware of their status. This article helps clinicians stratify breast cancer risk and discusses a newer genomic test, the polygenic risk score, that may enable more personalized risk management and decision-making.

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Female
  • Health Personnel
  • Humans
  • Mutation
  • Risk Factors