ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Identification of 13 Novel Loci in a Genome-Wide Association Study on Taiwanese with Hepatocellular Carcinoma.International journal of molecular sciences · 2023Pooled it
- Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study.BMC cancer · 2017Trial
- Polygenic Risk Scores and Its Association With Cutaneous Melanoma Risk in the Swedish Population.Pigment cell & melanoma research · 2026Article
- The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information.European journal of human genetics : EJHG · 2026Article
- Evaluating the impact of family history and polygenic risk scores on cardiometabolic disease risk.BMC medicine · 2026Article
- Foretelling the Future: Preimplantation Genetic Testing and the Coming of Polygenic Embryo Screening.Journal of clinical medicine · 2025Review
- Review
- Article
- Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2024Article
- Lymphocyte Count Derived Polygenic Score and Interindividual Variability in CD4 T-cell Recovery in Response to Antiretroviral Therapy.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2024Article
- Clinical utility of polygenic risk scores: a critical 2023 appraisal.Journal of community genetics · 2023Article
- High-throughput measurement of double strand break global repair phenotype in peripheral blood mononuclear cells after long-term cryopreservation.Cytometry. Part A : the journal of the International Society for Analytical Cytology · 2023Article
- Validation of an Abridged Breast Cancer Risk Prediction Model for the General Population.Cancer prevention research (Philadelphia, Pa.) · 2023Article
- Polygenic risk scores and breast cancer risk prediction.Breast (Edinburgh, Scotland) · 2023Review
- Leveraging Multi-Ancestry Polygenic Risk Scores for Body Mass Index to Predict Antiretroviral Therapy-Induced Weight Gain.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2023Article
- A NovelHuman mutation · 2023Article
- Systematic comparison of family history and polygenic risk across 24 common diseases.American journal of human genetics · 2022Article
- Capturing additional genetic risk from family history for improved polygenic risk prediction.Communications biology · 2022Article
- Whole-Exome Sequencing of Germline Variants in Non-Biomedicines · 2022Article
- Polygenic risk scores: the future of cancer risk prediction, screening, and precision prevention.Medical review (2021) · 2021Review
Corrections and comments
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Authors and funding
23 authors at 12 institutions in 4 countries.
Funding
Abstract
purposeThis study examined the utility of sets of single-nucleotide polymorphisms (SNPs) in familial but non-BRCA-associated breast cancer (BC).
methodsWe derived a polygenic risk score (PRS) based on 24 known BC risk SNPs for 4,365 women from the Breast Cancer Family Registry and Kathleen Cuningham Consortium Foundation for Research into Familial Breast Cancer familial BC cohorts. We compared scores for women based on cancer status at baseline; 2,599 women unaffected at enrollment were followed-up for an average of 7.4 years. Cox proportional hazards regression was used to analyze the association of PRS with BC risk. The BOADICEA risk prediction algorithm was used to measure risk based on family history alone.
resultsThe mean PRS at baseline was 2.25 (SD, 0.35) for affected women and was 2.17 (SD, 0.35) for unaffected women from combined cohorts (P < 10
conclusionIncluding BC-associated SNPs in risk assessment can provide more accurate risk prediction than family history alone and can influence recommendations for cancer screening and prevention modalities for high-risk women.Genet Med 19 1, 30-35.
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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.