ReviewBreast cancer research : BCR2020
Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
Review in Breast cancer research : BCR, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
77 citing papers in PubMed, 3 syntheses or guidelines pooled it, 159 citations in OpenAlex.
- Polygenic risk scores in the clinic: a systematic review of stakeholders' perspectives, attitudes, and experiences.European journal of human genetics : EJHG · 2025Pooled it
- Understanding the contribution of lifestyle in breast cancer risk prediction: a systematic review of models applicable to Europe.BMC cancer · 2023Pooled it
- Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer.Scientific reports · 2020Pooled it
- Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial.Genome medicine · 2025Trial
- PCSK9 rs562556 variant and survival in BRCA1 mutation carriers and mutation-negative familial breast cancer.NPJ breast cancer · 2026Article
- GP perspectives on genomics in primary care: a qualitative study on using polygenic risk scores to evaluate cancer risk.The British journal of general practice : the journal of the Royal College of General Practitioners · 2026Article
- Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements.iScience · 2026Review
- G4mer: An RNA language model for transcriptome-wide identification of G-quadruplexes and disease variants from population-scale genetic data.Nature communications · 2025Article
- Cost-effectiveness of genetic risk-stratified screening for breast cancer in Taiwan.Breast (Edinburgh, Scotland) · 2025Article
- Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study.JAMIA open · 2025Article
- Article
- Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.Journal of personalized medicine · 2025Article
- Standardization, Education, and Resourcing: The Way Forward for Implementing Polygenic Risk Scores in Hereditary Breast and Ovarian Cancer.Clinical and translational science · 2025Article
- Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.JCO precision oncology · 2025Article
- Integration of multi-imaging technique and immunohistochemistry for the development of a predictive nomogram for axillary lymph node metastasis in breast cancer.Frontiers in endocrinology · 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
- Rare Germline Variants in DNA Repair Genes Detected inCancers · 2024Article
- Article
- Breast Cancer Screening and Prophylactic Mastectomy for High-Risk Women in Romania.Medicina (Kaunas, Lithuania) · 2024Review
- Future implications of polygenic risk scores for life insurance underwriting.NPJ genomic medicine · 2024Review
17 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
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polygenic factors are estimated to account for an additional 18% of the familial relative risk of breast cancer, with those at the highest level of polygenic risk distribution having a least a twofold increased risk of the disease. Polygenic testing promises to revolutionize health services by providing personalized risk assessments to women at high-risk of breast cancer and within population breast screening programs. However, implementation of polygenic testing needs to be considered in light of its current limitations, such as limited risk prediction for women of non-European ancestry. This article aims to provide a comprehensive review of the evidence for polygenic breast cancer risk, including the discovery of variants associated with breast cancer at the genome-wide level of significance and the use of polygenic risk scores to estimate breast cancer risk. We also review the different applications of this technology including testing of women from high-risk breast cancer families with uninformative genetic testing results, as a moderator of monogenic risk, and for population screening programs. Finally, a potential framework for introducing testing for polygenic risk in familial cancer clinics and the potential challenges with implementing this technology in clinical practice are discussed.
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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.