ArticleBreast cancer research and treatment2016
Breast cancer risk prediction using a clinical risk model and polygenic risk score.
Article in Breast cancer research and treatment, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 3 of them syntheses that pooled it.
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The trial behind it
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
99 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Development and performance of female breast cancer incidence risk prediction models: a systematic review and meta-analysis.Annals of medicine · 2025Pooled it
- A systematic review and quality assessment of individualised breast cancer risk prediction models.British journal of cancer · 2019Pooled it
- A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis.Nature communications · 2019Pooled it
- Trial
- Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial.Genome medicine · 2025Trial
- Performance of clinical breast cancer risk prediction models vs a mammography-based artificial intelligence risk model.Journal of the National Cancer Institute · 2026Article
- Performance of an image-only deep learning breast cancer risk model with the addition of a polygenic risk score.British journal of cancer · 2026Article
- Polygenic Risk for Pre-Eclampsia and the Long-Term Risk of Incident Hypertension and Cardiovascular Disease: A Population-Based Cohort Study.BJOG : an international journal of obstetrics and gynaecology · 2026Article
- Multimodal Prediction of Primary Open-Angle Glaucoma Using Polygenic Risk Scores and Clinical Features in a High-Risk African Ancestry Cohort.medRxiv : the preprint server for health sciences · 2025Article
- Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.Journal of personalized medicine · 2025Article
- Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.JCO precision oncology · 2025Article
- Women's preferences for testing to predict breast cancer risk - a discrete choice experiment.Journal of translational medicine · 2025Article
- Review
- Clinical validation of an integrated risk assessment test incorporating genomic and non-genomic data for sporadic breast cancer in Colombia.Frontiers in genetics · 2025Article
- Enhancing Health Research with Machine Learning: Practical Case Studies Using theData science in science · 2025Article
- Genetic Risk Scores for the Clinical Rheumatologist.Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases · 2025Review
- Breast cancer risk assessment based on susceptibility genes and polygenic risk score in Vietnamese women.BJC reports · 2024Article
- Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.European journal of human genetics : EJHG · 2024Article
- The largest genome-wide association study for breast cancer in Taiwanese Han population.Breast cancer research and treatment · 2024Article
- The Prognostic Quality of Risk Prediction Models to Assess the Individual Breast Cancer Risk in Women: An Overview of Reviews.The breast journal · 2024Review
39 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
Breast cancer risk assessment can inform the use of screening and prevention modalities. We investigated the performance of the Breast Cancer Surveillance Consortium (BCSC) risk model in combination with a polygenic risk score (PRS) comprised of 83 single nucleotide polymorphisms identified from genome-wide association studies. We conducted a nested case-control study of 486 cases and 495 matched controls within a screening cohort. The PRS was calculated using a Bayesian approach. The contributions of the PRS and variables in the BCSC model to breast cancer risk were tested using conditional logistic regression. Discriminatory accuracy of the models was compared using the area under the receiver operating characteristic curve (AUROC). Increasing quartiles of the PRS were positively associated with breast cancer risk, with OR 2.54 (95 % CI 1.69-3.82) for breast cancer in the highest versus lowest quartile. In a multivariable model, the PRS, family history, and breast density remained strong risk factors. The AUROC of the PRS was 0.60 (95 % CI 0.57-0.64), and an Asian-specific PRS had AUROC 0.64 (95 % CI 0.53-0.74). A combined model including the BCSC risk factors and PRS had better discrimination than the BCSC model (AUROC 0.65 versus 0.62, p = 0.01). The BCSC-PRS model classified 18 % of cases as high-risk (5-year risk ≥3 %), compared with 7 % using the BCSC model. The PRS improved discrimination of the BCSC risk model and classified more cases as high-risk. Further consideration of the PRS's role in decision-making around screening and prevention strategies is merited.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.