Objective:

To evaluate the performance of newly developed polygenic risk score (PRS) models for breast cancer (BC) risk in a large independent cohort of African American women at elevated risk due to strong cancer family history.

Approach:

Key Findings:

• The study included women with negative results for known BC susceptibility genes to assess the independent contribution of PRS.
• PRS models showed strong predictive performance in independent cohorts of individuals with African ancestry.

Interpretation:

Validation of PRS performance in high-risk populations is necessary to assess their utility for risk stratification and screening.

Limitations:

• The study focused on women with negative results for known pathogenic variants, which may limit generalizability.
• The performance of PRS models in clinically relevant settings enriched for familial risk remains unclear.

Conclusion:

The study aims to provide insights into the applicability of PRS models for breast cancer risk assessment in high-risk African American women.

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