ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Potential of polygenic risk scores for improving population estimates of women's breast cancer genetic risks.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Polygenic Risk Scores for Breast Cancer Among African American Women With High Risk.JAMA network open · 2026Article
- Article
- Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.Journal of personalized medicine · 2025Article
- Associations Between DNA Repair Gene Polymorphisms and Breast Cancer Histopathological Subtypes: A Preliminary Study.Journal of clinical medicine · 2025Article
- Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.JCO precision oncology · 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
- Polygenic risk and rare variant gene clustering enhance cancer risk stratification for breast and prostate cancers.Communications biology · 2024Article
- GastricAITool: A Clinical Decision Support Tool for the Diagnosis and Prognosis of Gastric Cancer.Biomedicines · 2024Article
- Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation.Diagnostics (Basel, Switzerland) · 2024Article
- A Breast Cancer Polygenic Risk Score Is Feasible for Risk Stratification in the Norwegian Population.Cancers · 2023Article
- Article
- Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.Brain : a journal of neurology · 2023Article
- Integration of a Cross-Ancestry Polygenic Model With Clinical Risk Factors Improves Breast Cancer Risk Stratification.JCO precision oncology · 2023Article
- Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice.Breast cancer : basic and clinical research · 2023Article
- Article
- Article
- Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I).Journal of personalized medicine · 2021Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBreast cancer risk has conventionally been assessed using family history (FH) and rare high/moderate penetrance pathogenic variants (PVs), notably in BRCA1/2, and more recently PALB2, CHEK2, and ATM. In addition to these PVs, it is now possible to use increasingly predictive polygenic risk scores (PRS) as well. The comparative population-level predictive capability of these three different indicators of genetic risk for risk stratification is, however, unknown.
methodsThe Canadian heritable breast cancer risk distribution was estimated using a novel genetic mixing model (GMM). A realistically representative sample of women was synthesized based on empirically observed demographic patterns for appropriately correlated family history, inheritance of rare PVs, PRS, and residual risk from an unknown polygenotype. Risk assessment was simulated using the BOADICEA risk algorithm for 10-year absolute breast cancer incidence, and compared to heritable risks as if the overall polygene, including its measured PRS component, and PV risks were fully known.
resultsGenerally, the PRS was most predictive for identifying women at high risk, while family history was the weakest. Only the PRS identified any women at low risk of breast cancer.
conclusionPRS information would be the most important advance in enabling effective risk stratification for population-wide breast cancer screening.
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