ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- A Systematic Review of Patient-Reported Measures for Individuals Who Underwent Genetic Testing for Heritable Cancer.The patient · 2026Pooled it
- Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- The impact of breast cancer polygenic risk score disclosure on decisional conflict around risk-reducing mastectomy in women with pathogenic BRCA1/2 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- A mixed-methods exploration of stakeholder experiences and perspectives on integrating polygenic breast cancer risk scores into Swedish clinical practice.BMC health services research · 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
- Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients' Perspectives on Influencing Factors and Strategies.The patient · 2025Article
- At-home Breast Oncology care Delivered with EHealth solutions (ABODE) study protocol: a randomised controlled trial.BMJ open · 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
- Impact of polygeNic risk score for glaucoma on psycHosocial ouTcomes (INSiGHT) study protocol.PloS one · 2024Article
- Clinical utility of polygenic risk scores: a critical 2023 appraisal.Journal of community genetics · 2023Article
- The role of polygenic risk scores in breast cancer risk perception and decision-making.Journal of community genetics · 2023Article
- A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website.European journal of human genetics : EJHG · 2023Article
- Article
- Oncobiology and treatment of breast cancer in young women.Cancer metastasis reviews · 2022Review
- Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study.Clinical genetics · 2022Observational
- Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Exploring Implementation of Personal Breast Cancer Risk Assessments.Journal of personalized medicine · 2021Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo prospectively assess patient reported outcomes and risk management behavior of women choosing to receive (receivers) or decline (decliners) their breast cancer polygenic risk score (PRS).
methodsWomen either unaffected or affected by breast cancer and from families with no identified pathogenic variant in a breast cancer risk gene were invited to receive their PRS. All participants completed a questionnaire at study enrollment. Receivers completed questionnaires at two weeks and 12 months after receiving their PRS, and decliners a second questionnaire at 12 months post study enrollment.
resultsOf the 208 participants, 165 (79%) received their PRS. Among receivers, there were no changes in anxiety or distress following testing. However, compared to women with a low PRS, those with a high PRS reported greater genetic testing-specific distress, perceived risk, decisional regret, and less genetic testing-positive response. At 12 months, breast screening and uptake of risk-reducing strategies were consistent with current Australian guidelines of breast cancer risk management. Reasons for declining PRS included being unable to attend the appointment in person and concerns over potential emotional response.
conclusionThe outcomes of the study provide insight into women's responses to receiving PRS and highlight the issues that need to be addressed in the associated model of genetic counseling.
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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.