ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2024
Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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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
23 citing papers in PubMed, 29 citations in OpenAlex.
- Polygenic Risk Based Detection and Treatment of Subclinical Coronary Atherosclerosis in the PROACT Clinical Trials.Journal of the American College of Cardiology · 2026Trial
- Development and pilot testing of a prostate cancer polygenic risk report.BMC medical genomics · 2026Trial
- Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- The Burden of Breast Cancer and its Attributable Risk Factors in 204 Countries and Territories, 1990-2021: Results From the Global Burden of Disease Study 2021.Cancer innovation · 2026Article
- Unlocking the potential of FinnGen to advance cancer research.Nature reviews. Cancer · 2026Article
- Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer.NPJ genomic medicine · 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
- Breast cancer risk during oral contraceptive use in women with high polygenic risk.Breast cancer research : BCR · 2025Article
- Polygenic risk scores in the clinic: Health-system leaders and primary care providers weigh in.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer.medRxiv : the preprint server for health sciences · 2025Article
- Association between cancer screenings uptake and genetic testing for cancer risk among US adults: findings from HINTS 2017-2020.Journal of community genetics · 2025Article
- Deriving risk-adapted starting ages of breast cancer screening according to polygenic risk score.JNCI cancer spectrum · 2025Article
- Genetic and Nongenetic Risk Factors for Breast Cancer Risk Estimation.JAMA network open · 2025Observational
- Review
- Polygenic risk scores stratify breast cancer risk among women with benign breast disease.Journal of the National Cancer Institute · 2025Article
- High familial risks in some rare cancers may pinpoint to hidden germline genetics: focus on esophageal, stomach, small intestinal, testis, thyroid and bone cancers.Hereditary cancer in clinical practice · 2025Review
- Breast cancer: pathogenesis and treatments.Signal transduction and targeted therapy · 2025Review
- Socioeconomic and Geographic Differences in Mammography Trends Following the 2009 USPSTF Policy Update.JAMA network open · 2025Article
- A Scoping Review of Primary Breast Cancer Risk Reduction Strategies in East and Southeast Asia.Cancers · 2025Review
- The convergence of genomic medicine and translational omics in transforming breast cancer patient care.The Journal of clinical investigation · 2024Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeFamily history (FH) and pathogenic variants (PVs) are used for guiding risk surveillance in selected high-risk women but little is known about their impact for breast cancer screening on population level. In addition, polygenic risk scores (PRSs) have been shown to efficiently stratify breast cancer risk through combining information about common genetic factors into one measure.
methodsIn longitudinal real-life data, we evaluate PRS, FH, and PVs for stratified screening. Using FinnGen (N = 117,252), linked to the Mass Screening Registry for breast cancer (1992-2019; nationwide organized biennial screening for age 50-69 years), we assessed the screening performance of a breast cancer PRS and compared its performance with FH of breast cancer and PVs in moderate- (
resultsEffect sizes for FH, PVs, and high PRS (>90th percentile) were comparable in screening-aged women, with similar implications for shifting age at screening onset. A high PRS identified women more likely to be diagnosed with breast cancer after a positive screening finding (positive predictive value [PPV], 39.5% [95% CI, 37.6 to 41.5]). Combinations of risk factors increased the PPVs up to 45% to 50%. A high PRS conferred an elevated risk of interval breast cancer (hazard ratio [HR], 2.78 [95% CI, 2.00 to 3.86] at age 50 years; HR, 2.48 [95% CI, 1.67 to 3.70] at age 60 years), and women with a low PRS (<10th percentile) had a low risk for both interval- and screen-detected breast cancers.
conclusionUsing real-life screening data, this study demonstrates the effectiveness of a breast cancer PRS for risk stratification, alone and combined with FH and PVs. Further research is required to evaluate their impact in a prospective risk-stratified screening program, including cost-effectiveness.
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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.