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

NCT06922708 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100

Last updated 2026-08-03

No results posted yet for this study

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.

Conditions

Interventions

GENETIC

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.).

Sponsors & Collaborators

  • Catholic University of the Sacred Heart

    lead OTHER

Principal Investigators

  • Stefania Boccia, Phd · Life Sciences and Public Health Department, Università Cattolica del Sacro Cuore, Rome, Italy

Study Design

Allocation
NA
Purpose
PREVENTION
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
79 Years
Sex
FEMALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-06-06
Primary Completion
2026-09-30
Completion
2026-11-30

Countries

  • Italy

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06922708 on ClinicalTrials.gov