Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry
Author(s) -
Cong Liu,
Nur Zeinomar,
Wendy K. Chung,
Krzysztof Kiryluk,
Ali G. Gharavi,
George Hripcsak,
Katherine D. Crew,
Ning Shang,
Atlas Khan,
David Fasel,
Teri A. Manolio,
Gail P. Jarvik,
Robb Rowley,
Ann E. Justice,
Alanna Kulchak Rahm,
Stephanie M. Fullerton,
Jordan W. Smoller,
Eric B. Larson,
Paul K. Crane,
Ozan Dikilitas,
Georgia L. Wiesner,
Alexander G. Bick,
Mary Beth Terry,
Chunhua Weng
Publication year - 2021
Publication title -
jama network open
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.278
H-Index - 39
ISSN - 2574-3805
DOI - 10.1001/jamanetworkopen.2021.19084
Subject(s) - breast cancer , medicine , ancestry informative marker , generalizability theory , odds ratio , demography , logistic regression , genetic genealogy , cancer , genotype , population , single nucleotide polymorphism , environmental health , genetics , biology , statistics , mathematics , sociology , gene
Key Points Question How do previously developed breast cancer polygenic risk scores (PRSs) perform in a clinical setting for women of different ancestries? Findings In this multicenter cohort study linking electronic medical records to genotyping data that including 39 591 women, PRSs were significantly associated with breast cancer risk in women of all ancestries, although the effect sizes were smaller in women with African ancestry. Meaning Previously developed PRS models for breast cancer risk performed well for women with European and Latinx ancestries in different clinical settings; these results suggest that larger studies are needed to develop and validate PRSs for women with African ancestry.
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