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Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women

Ho, P.J. ; Augustinsson, A. LU ; Jernström, H. LU and Li, J. (2025) In Cancers 17(21).
Abstract
Background: Breast cancer polygenic risk scores (PRS) and traditional risk models (e.g., the Gail model [Gail]) are known to contribute largely independent information, but it is unclear how the overlap varies by ancestry, age, disease type (invasive breast cancer, DCIS), and risk threshold. Methods: In a retrospective case–control study, we evaluated risk prediction performance in 180,398 women (161,849 of European ancestry; 18,549 of Asian ancestry). Odds ratios (ORs) from logistic regression models and the area under the receiver operating characteristic curve (AUC) were estimated. Results: PRS for invasive disease showed a stronger association in younger (
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; ; and
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
BRCA1, BRCA2, breast cancer, ductal carcinoma in situ (DCIS), Gail model, polygenic risk score (PRS), risk stratification, risk-based screening, adult, analysis, Article, breast cancer high risk classification, case control study, chi square test, classification, cohort analysis, controlled study, diagnostic test accuracy study, family history, female, gail model, genetic risk score, human, live birth, logistic regression analysis, major clinical study, middle aged, odds ratio, predictive model, pregnancy, receiver operating characteristic, retrospective study, risk assessment, risk factor, risk model, scoring system, sensitivity analysis, threshold based overlap, traditional risk model
in
Cancers
volume
17
issue
21
article number
3561
publisher
MDPI AG
external identifiers
  • scopus:105025018397
  • pmid:41228354
ISSN
2072-6694
DOI
10.3390/cancers17213561
language
English
LU publication?
yes
id
760c3c39-dff2-4f08-a14c-ad24e6ece044
date added to LUP
2026-03-31 15:46:31
date last changed
2026-04-01 03:00:02
@article{760c3c39-dff2-4f08-a14c-ad24e6ece044,
  abstract     = {{Background: Breast cancer polygenic risk scores (PRS) and traditional risk models (e.g., the Gail model [Gail]) are known to contribute largely independent information, but it is unclear how the overlap varies by ancestry, age, disease type (invasive breast cancer, DCIS), and risk threshold. Methods: In a retrospective case–control study, we evaluated risk prediction performance in 180,398 women (161,849 of European ancestry; 18,549 of Asian ancestry). Odds ratios (ORs) from logistic regression models and the area under the receiver operating characteristic curve (AUC) were estimated. Results: PRS for invasive disease showed a stronger association in younger (}},
  author       = {{Ho, P.J. and Augustinsson, A. and Jernström, H. and Li, J.}},
  issn         = {{2072-6694}},
  keywords     = {{BRCA1; BRCA2; breast cancer; ductal carcinoma in situ (DCIS); Gail model; polygenic risk score (PRS); risk stratification; risk-based screening; adult; analysis; Article; breast cancer high risk classification; case control study; chi square test; classification; cohort analysis; controlled study; diagnostic test accuracy study; family history; female; gail model; genetic risk score; human; live birth; logistic regression analysis; major clinical study; middle aged; odds ratio; predictive model; pregnancy; receiver operating characteristic; retrospective study; risk assessment; risk factor; risk model; scoring system; sensitivity analysis; threshold based overlap; traditional risk model}},
  language     = {{eng}},
  number       = {{21}},
  publisher    = {{MDPI AG}},
  series       = {{Cancers}},
  title        = {{Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women}},
  url          = {{http://dx.doi.org/10.3390/cancers17213561}},
  doi          = {{10.3390/cancers17213561}},
  volume       = {{17}},
  year         = {{2025}},
}