Clinical Research Directory

Implementing Polygenic Risk Scores for Breast Cancer Prevention: a Feasibility Study

Sponsor: Boccia Stefania

Summary

The goal of this single-arm interventional study is to learn whether integrating a polygenic risk score (PRS) into the CanRisk model can help improve breast cancer risk prediction and prevention in adult women with or without a family history of breast cancer and in women diagnosed with unilateral breast cancer. The main questions it aims to answer are: 1. Is it feasible and acceptable to add PRS testing into standard breast cancer risk assessment for healthcare professionals and patients? 2. Does PRS testing change the way individuals are categorized into low, moderate, or high-risk groups? 3. What practical barriers or facilitators do participants and healthcare staff identify when using PRS in a routine clinical setting? Participants will: * Provide a blood sample for PRS testing and for pathogenetic variants for breast cancer risk (if they have not already had genetic testing). * Complete a questionnaire on their experience and acceptance of PRS. Because this is a single-arm study, there is no separate comparison group. The study team will use the results to see how well PRS can be integrated into clinical care and whether it offers any improvements in prevention strategies for breast cancer.

Official title: Implementing Polygenic Risk Scores for Breast Cancer Prevention: Protocol for a Feasibility Study in a Real-world Clinical Setting

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