{
  "abstract": "Introduction Polygenic risk scores (PRSs) enhance breast cancer risk prediction when integrated into multifactorial models such as CanRisk. However, evidence on the real-world feasibility of incorporating PRS into routine hereditary breast cancer pathways remains limited, particularly within southern European healthcare systems. This study aims to evaluate the feasibility and acceptability of integrating PRS into clinical risk assessment in a real-world setting in Italy.Methods and analysis This is a single-arm feasibility implementation study to be conducted in a real-world clinical setting at a large university hospital in Rome, Italy. A minimum of 100 women attending a Medical Genetics Clinic for breast cancer risk assessment will be enrolled. Eligible participants include unaffected women with family history or increased baseline risk and women with unilateral breast cancer undergoing contralateral risk assessment. Participants will undergo CanRisk assessment to estimate lifetime breast cancer risk, calculated with and without PRS integration, and subsequently classified into three risk categories according to regional guidelines: general population risk, moderate risk and high risk. The primary outcome is feasibility of PRS integration into the clinical workflow, assessed using a validated questionnaire administered to participants and healthcare professionals. Secondary outcomes include PRS uptake, acceptability of receiving PRS-informed risk estimates, emotional response, risk reclassification rates and potential modifications to preventive recommendations. Quantitative analyses will include descriptive statistics, paired comparisons and multivariable regression models; qualitative perceptions will be explored through structured questionnaires.Ethics and dissemination The first version of the study was approved by the Ethics Committee of Fondazione Policlinico Universitario A. Gemelli IRCCS—Comitato Etico Territoriale Lazio Area 3 on 13 December 2024, with the current amended version approved on 11 September 2025 (approval reference ID 7310). Participation is voluntary and based on written informed consent. Findings will be disseminated through peer-reviewed publications, presentations at national and international conferences and engagement with clinical and public health stakeholders to inform the integration of genomic risk stratification into preventive pathways.Trial registration number NCT06922708.",
  "abstract_shown": true,
  "affiliations": [
    "Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy",
    "Section of Genomic Medicine, Department of Life Science and Public Health, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy",
    "Research Core Facilty Data Collection G-SteP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
    "Medical Genetics Unit, Department of Laboratory and Hematological Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
    "Department of Woman and Child Health and Public Health - Public Health Area, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy"
  ],
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  "author_total": 16,
  "authors": [
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        0
      ],
      "name": "Sara Farina",
      "orcid": "0000-0002-9853-5278"
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    {
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      "name": "Francesco Andrea Causio"
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    {
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      "name": "Pietro Eric Risuleo"
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      "name": "Alessandra Verduchi"
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      "name": "Eleonora Pascucci"
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      "name": "Alessandra Sabatelli"
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      "name": "Riccardo Galarducci"
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    {
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      "name": "Luigi Russo",
      "orcid": "0009-0006-5015-2725"
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    {
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      "name": "Elena Sonnini"
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      "name": "Tina Pasciuto",
      "orcid": "0000-0003-2959-8571"
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      "name": "Rosarita Amore"
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      "name": "Maurizio Genuardi"
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      "name": "Roberta Pastorino",
      "orcid": "0000-0001-5013-0733"
    },
    {
      "affs": [
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        4
      ],
      "name": "Stefania Boccia"
    }
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  "doi": "10.1136/bmjopen-2026-121783",
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  "title": "Implementing polygenic risk scores for breast cancer prevention: protocol for a feasibility study in a real-world clinical setting",
  "title_text": "Implementing polygenic risk scores for breast cancer prevention: protocol for a feasibility study in a real-world clinical setting",
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