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A new polygenic risk score (PRS) effectively stratifies breast cancer risk, comparable to family history and pathogenic variants. This PRS can guide personalized screening strategies for improved breast cancer detection and risk management.

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Area of Science:

  • Genetics and Genomics
  • Oncology
  • Public Health

Background:

  • Family history (FH) and pathogenic variants (PVs) are established breast cancer risk factors used for targeted surveillance.
  • Polygenic risk scores (PRS) integrate common genetic variants to stratify breast cancer risk.
  • The population-level impact of PRS on breast cancer screening remains underexplored.

Purpose of the Study:

  • To evaluate the performance of a breast cancer PRS for risk stratification in population-level screening.
  • To compare the effectiveness of PRS with traditional risk factors like FH and PVs.
  • To assess the potential of PRS in guiding personalized breast cancer screening strategies.

Main Methods:

  • Utilized longitudinal real-life data from the FinnGen study (N=117,252).
  • Linked genetic data with the Finnish Mass Screening Registry for breast cancer (1992-2019).
  • Assessed breast cancer PRS performance against FH and PVs in moderate- (CHEK2) and high-risk (PALB2) genes.

Main Results:

  • High PRS (>90th percentile) showed comparable risk stratification to FH and PVs, influencing screening onset age.
  • A high PRS identified women with a higher likelihood of breast cancer post-screening (PPV 39.5%).
  • Combinations of risk factors improved PPVs to 45-50%; high PRS increased interval breast cancer risk (HR 2.48-2.78).

Conclusions:

  • Breast cancer PRS demonstrates effectiveness in risk stratification, both independently and combined with FH and PVs.
  • PRS can enhance personalized breast cancer screening programs.
  • Further prospective studies are needed to confirm cost-effectiveness and optimize implementation.