Polygenic Risk Scores for Breast Cancer Among African American Women With High Risk

How do newly-developed polygenic risk score (PRS) models for overall breast cancer (BC) and triple-negative BC (TNBC) perform in a cohort of women self-reporting African ancestry with enriched family history of BC?In this case-control study of 31 522 African American women (12 067 individuals with BC, including 2311 with TNBC; 19 455 unaffected individuals), the 2 overall BC PRSs showed better discriminative performance than PRS-313, a model developed on a European-ancestry cohort, and higher odds of BC per 1 SD increase. For TNBC, a 162-variant PRS showed the best discrimination.These findings suggest these PRSs support potential practical, cost-effective, and more equitable BC risk assessment for individuals of African ancestry.

Corresponding Author: Dezheng Huo, MD, PhD, Department of Public Health Sciences, The University of Chicago, 5841 S Maryland Ave, MC 2000, Chicago, IL 60637 (dhuo@bsd.uchicago.edu).

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