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Area of Science:

  • Oncology
  • Genetics
  • Preventive Medicine

Background:

  • Risk-reducing endocrine therapy (ET) for breast cancer is underutilized.
  • Polygenic-risk scores (PRS) offer a tool for precise, individualized breast cancer risk assessment.
  • Previous studies explored the impact of PRS on ET initiation.

Purpose of the Study:

  • To evaluate the long-term effect of PRS-refined breast cancer risk estimates on ET use and quality of life (QOL).
  • To assess the sustained influence of PRS-informed counseling on risk-reducing behaviors over two years.

Main Methods:

  • A clinical trial involving 151 participants stratified by PRS-refined breast cancer risk.
  • Evaluation of ET initiation, discontinuation, and adherence at 1- and 2-year follow-ups.
  • Assessment of ET-related quality of life (QOL) at 1- and 2-year follow-ups.

Main Results:

  • At 2 years, 23.8% of participants were using ET, with higher uptake among those with elevated PRS-refined risk (up to 39%).
  • A significant increase in ET use was observed in participants whose risk increased by 10% or more with PRS integration (40%).
  • QOL was similar between ET users and non-users, though discontinuation was linked to adverse effects.

Conclusions:

  • PRS-informed breast cancer risk counseling demonstrates a lasting, albeit diminishing, effect on preventive medication uptake.
  • Further research is needed to fully understand PRS's impact on ET adherence, QOL, and other risk-reducing strategies.
  • Individualized risk assessment tools like PRS show promise in increasing the use of preventive medications for breast cancer.