ArticleJournal of the National Cancer Institute2021
Personalizing Breast Cancer Screening Based on Polygenic Risk and Family History.
Article in Journal of the National Cancer Institute, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Repeated measures of mammographic density and texture to evaluate prediction and risk of breast cancer: a systematic review of the methods used in the literature.Cancer causes & control : CCC · 2023Pooled it
- Advanced Versus Invasive Breast Cancer Risk in a Screening Population: Implications for Risk-based Prevention and Screening Strategies.Journal of general internal medicine · 2026Article
- Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Breast cancer polygenic risk score performance varies by socioeconomic status.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Five-Year Absolute Risk-Based and Age-Based Breast Cancer Screening in the US.JAMA network open · 2026Article
- A clinical pilot study for personalized risk-based breast cancer screening utilizing a polygenic risk score.PloS one · 2026Article
- Awareness, knowledge, and attitudes toward polygenic risk scores for breast cancer in multiethnic high-risk cohorts of women.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- A Systematic Review of the Cost-Effectiveness of Screening Modalities for Breast Cancer in European Countries.Cancers · 2025Review
- Article
- Readiness and leadership for the implementation of polygenic risk scores: Genetic healthcare providers' perspectives in the hereditary cancer context.Journal of genetic counseling · 2025Article
- Article
- Review
- Barriers and Facilitators to Delivering Multifactorial Risk Assessment and Communication for Personalized Breast Cancer Screening: A Qualitative Study Exploring Implementation in Canada.Current oncology (Toronto, Ont.) · 2025Article
- Attitudes regarding polygenic risk testing for lung cancer: a mixed-methods study.Annals of behavioral medicine : a publication of the Society of Behavioral Medicine · 2025Article
- Integrative genetic analysis: cornerstone of precision psychiatry.Molecular psychiatry · 2025Review
- Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.Breast cancer research : BCR · 2024Article
- 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
- Article
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 at 9 institutions in 4 countries.
Funding
Abstract
backgroundWe assessed the clinical utility of a first-degree breast cancer family history and polygenic risk score (PRS) to inform screening decisions among women aged 30-50 years.
methodsTwo established breast cancer models evaluated digital mammography screening strategies in the 1985 US birth cohort by risk groups defined by family history and PRS based on 313 single nucleotide polymorphisms. Strategies varied in initiation age (30, 35, 40, 45, and 50 years) and interval (annual, hybrid, biennial, triennial). The benefits (breast cancer deaths averted, life-years gained) and harms (false-positive mammograms, overdiagnoses) were compared with those seen with 3 established screening guidelines.
resultsWomen with a breast cancer family history who initiated biennial screening at age 40 years (vs 50 years) had a 36% (model range = 29%-40%) increase in life-years gained and 20% (model range = 16%-24%) more breast cancer deaths averted, but 21% (model range = 17%-23%) more overdiagnoses and 63% (model range = 62%-64%) more false positives. Screening tailored to PRS vs biennial screening from 50 to 74 years had smaller positive effects on life-years gained (20%) and breast cancer deaths averted (11%) but also smaller increases in overdiagnoses (10%) and false positives (26%). Combined use of family history and PRS vs biennial screening from 50 to 74 years had the greatest increase in life-years gained (29%) and breast cancer deaths averted (18%).
conclusionsOur results suggest that breast cancer family history and PRS could guide screening decisions before age 50 years among women at increased risk for breast cancer but expected increases in overdiagnoses and false positives should be expected.
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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.