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

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

Last updated 2025-06-03

No results posted yet for this study

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.

Conditions

Interventions

DIAGNOSTIC_TEST

Integrated PRS-Enhanced Breast Cancer Risk Assessment (CanRisk model)

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.

Sponsors & Collaborators

  • Catholic University of the Sacred Heart

    collaborator OTHER

  • Boccia Stefania

    lead OTHER

Principal Investigators

  • Stefania Boccia, Phd · Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy

Study Design

Allocation
NA
Purpose
PREVENTION
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
FEMALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-06-09
Primary Completion
2026-03-31
Completion
2026-05-30

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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