ArticleJCO precision oncology2022
Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition.
Article in JCO precision oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Polygenic Risk Scores for Breast Cancer Among African American Women With High Risk.JAMA network open · 2026Article
- Genomic landscape of cancer in racially and ethnically diverse populations.Nature reviews. Genetics · 2025Review
- Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.JCO precision oncology · 2025Article
- Inference of genetic ancestry from a multi-gene cancer panel in Colombian women with cancer.Breast cancer research and treatment · 2025Article
- Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.JAMA network open · 2025Observational
- TRACE: applying AI language models to extract ancestry information from curated biomedical literature.Frontiers in digital health · 2025Article
- What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries.Journal of community genetics · 2024Article
- Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study.Scientific reports · 2024Article
- Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors.Nature medicine · 2024Article
- Disparities in Breast Cancer Care-How Factors Related to Prevention, Diagnosis, and Treatment Drive Inequity.Healthcare (Basel, Switzerland) · 2024Review
- Genetic counseling and testing for females at elevated risk for breast cancer: Protocol for the randomized controlled trial of the Know Your Risk intervention.Contemporary clinical trials · 2023Article
- An apparent quandary: adoption of polygenics and gene panels for personalised breast cancer risk stratification.BJC reports · 2023Review
- The North Carolina Tissue Consortium: Ensuring Equitable Representation and Accessibility to Cancer Specimens from Eastern North Carolina.North Carolina medical journal · 2023Review
- Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.BMC cancer · 2023Article
- Rs867228 in FPR1 accelerates the manifestation of luminal B breast cancer.Oncoimmunology · 2023Article
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Authors and funding
29 authors at 9 institutions in 1 country.
Funding
Abstract
purposePolygenic risk scores (PRSs) for breast cancer (BC) risk stratification have been developed primarily in women of European ancestry. Their application to women of non-European ancestry has lagged because of the lack of a formal approach to incorporate genetic ancestry and ancestry-dependent variant frequencies and effect sizes. Here, we propose a multiple-ancestry PRS (MA-PRS) that addresses these issues and may be useful in the development of equitable PRSs across other cancers and common diseases. MATERIALS AND
methodsWomen referred for hereditary cancer testing were divided into consecutive cohorts for development (n = 189,230) and for independent validation (n = 89,126). Individual genetic composition as fractions of three reference ancestries (African, East Asian, and European) was determined from ancestry-informative single-nucleotide polymorphisms. The MA-PRS is a combination of three ancestry-specific PRSs on the basis of genetic ancestral composition. Stratification of risk was evaluated by multivariable logistic regression models controlling for family cancer history. Goodness-of-fit analysis compared expected with observed relative risks by quantiles of the MA-PRS distribution.
resultsIn independent validation, the MA-PRS was significantly associated with BC risk in the full cohort (odds ratio, 1.43; 95% CI, 1.40 to 1.46;
conclusionThe MA-PRS uses genetic ancestral composition to expand the utility of polygenic risk prediction to non-European women. Inclusion of genetic ancestry in polygenic risk prediction presents an opportunity for more personalized treatment decisions for women of varying and mixed ancestries.
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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.