Status:

NOT_YET_RECRUITING

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

Lead Sponsor:

Boccia Stefania

Collaborating Sponsors:

Catholic University of the Sacred Heart

Conditions:

Breast Cancer

Eligibility:

FEMALE

18+ years

Phase:

NA

Brief 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 ad...

Detailed Description

This single-arm feasibility study will integrate polygenic risk scores (PRS) into the CanRisk breast cancer risk model and evaluate the logistical and organizational aspects of its use in an establish...

Eligibility Criteria

Inclusion

  • Ability to provide informed consent
  • Voluntary consent to participate
  • CanRisk score (without PRS) \> 5% (calculated on www.canrisk.org)
  • Healthy women with:
  • Known family history of breast cancer, or
  • Known family history of genetic conditions associated with increased breast cancer risk, or
  • Known carriers of pathogenic variants (BRCA1, BRCA2, PALB2, CHEK2, ATM, PTEN, TP53, CDH1)
  • Affected women with:
  • Diagnosis of unilateral breast cancer
  • Personal history of ovarian cancer

Exclusion

  • CanRisk score (without PRS) \< 5% (calculated on www.canrisk.org)
  • Diagnosis or history of bilateral breast cancer
  • Previous bilateral mastectomy
  • Life expectancy \< 12 months due to other medical conditions
  • Participation in interventional clinical trials for breast cancer prevention in the last 12 months
  • Inability to provide informed consent

Key Trial Info

Start Date :

June 9 2025

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

May 30 2026

Estimated Enrollment :

100 Patients enrolled

Trial Details

Trial ID

NCT06922708

Start Date

June 9 2025

End Date

May 30 2026

Last Update

June 3 2025

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