ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2023
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 28 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed.
- Risk Stratified Breast Cancer Screening: Early Outcomes and Psychological Impact from PRSONAL - a Randomized Clinical Trial.Breast (Edinburgh, Scotland) · 2026Trial
- A randomized study of 2 risk assessment models for individualized breast cancer risk estimation.Journal of the National Cancer Institute · 2025Trial
- Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factors.NPJ breast cancer · 2026Article
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- Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study.American journal of human genetics · 2026Article
- Genomic risk model to implement precision prostate cancer screening in clinical care: the ProGRESS study.Nature cancer · 2026Article
- A clinical pilot study for personalized risk-based breast cancer screening utilizing a polygenic risk score.PloS one · 2026Article
- Breast cancer risk prediction with a modified BOADICEA model in Danish women.British journal of cancer · 2026Article
- Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population.British journal of cancer · 2025Article
- Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study.JAMIA open · 2025Article
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- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- Barriers and Facilitators to Delivering Multifactorial Risk Assessment and Communication for Personalized Breast Cancer Screening: A Qualitative Study Exploring Implementation in Canada.Current oncology (Toronto, Ont.) · 2025Article
- Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice.Cancer prevention research (Philadelphia, Pa.) · 2025Article
- Breaking binary in cardiovascular disease risk prediction.NPJ cardiovascular health · 2025Review
- Correction: Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Article
- Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk.JAMA network open · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
25 authors.
Funding
Abstract
backgroundThe multifactorial risk prediction model BOADICEA enables identification of women at higher or lower risk of developing breast cancer. BOADICEA models genetic susceptibility in terms of the effects of rare variants in breast cancer susceptibility genes and a polygenic component, decomposed into an unmeasured and a measured component - the polygenic risk score (PRS). The current version was developed using a 313 SNP PRS. Here, we evaluated approaches to incorporating this PRS and alternative PRS in BOADICEA.
methodsThe mean, SD, and proportion of the overall polygenic component explained by the PRS (α2) need to be estimated. $\alpha $ was estimated using logistic regression, where the age-specific log-OR is constrained to be a function of the age-dependent polygenic relative risk in BOADICEA; and using a retrospective likelihood (RL) approach that models, in addition, the unmeasured polygenic component.
resultsParameters were computed for 11 PRS, including 6 variations of the 313 SNP PRS used in clinical trials and implementation studies. The logistic regression approach underestimates $\alpha $, as compared with the RL estimates. The RL $\alpha $ estimates were very close to those obtained by assuming proportionality to the OR per 1 SD, with the constant of proportionality estimated using the 313 SNP PRS. Small variations in the SNPs included in the PRS can lead to large differences in the mean.
conclusionsBOADICEA can be readily adapted to different PRS in a manner that maintains consistency of the model. IMPACT: : The methods described facilitate comprehensive breast cancer risk assessment.
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