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Implementing Polygenic Risk Scores for Breast Cancer Prevention: a Feasibility Study
Sponsor: Catholic University of the Sacred Heart
Summary
This single-arm interventional feasibility study will evaluate whether integrating polygenic risk scores (PRS) into the CanRisk model can improve breast cancer risk prediction and personalized prevention in women at risk of breast cancer. The study will assess the organizational feasibility, patient acceptance, emotional impact and satisfaction of an integrated pathway combining PRS testing with standard genetic counseling and other risk factors at Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
Official title: Implementing Polygenic Risk Scores for Breast Cancer Prevention: Protocol for a Feasibility Study in a Real-world Clinical Setting
Key Details
Gender
FEMALE
Age Range
18 Years - 79 Years
Study Type
INTERVENTIONAL
Enrollment
100
Start Date
2025-06-06
Completion Date
2026-11-30
Last Updated
2026-08-03
Healthy Volunteers
Yes
Conditions
Interventions
Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment
Standard genetic counseling followed by a blood draw (0.5 mL) for DNA extraction. The sample is processed using a high-throughput SNP genotyping platform, and the PRS, based on 313 SNPs, is calculated and integrated into the CanRisk model for refined breast cancer risk stratification. In conjunction with result disclosure, participants complete structured questionnaires to assess psychological impact and risk comprehension (questionnaire by Woof et al.). At the end of the study, both participants and healthcare professionals complete feasibility questionnaires to evaluate the implementation of the PRS-integrated clinical pathway (Care Process Self-Evaluation Tool, CPSET; Vanhaecht et al.).
Locations (1)
Policlinico Universitario Fondazione Agostino Gemelli
Roma, Italy