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

Recruiting now · Not applicable

Conditions studied: Breast Cancer

In brief

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.

Key facts

Study ID

NCT06922708

Run by

Catholic University of the Sacred Heart

People needed

100

Starts

2025-06-06

Expected to finish

2026-11-30

Last updated by the study team

2026-08-03

Who can join

Age: 18 and older, up to 79. Sex: female. Healthy volunteers: accepted.

You may qualify if…

• Ability to provide informed consent
• Voluntary consent to participate
• Estimated risk of carrying an inherited pathogenic variant (in BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1) > 5%, (calculated on www.canrisk.org)
• Healthy women with:
• Known family history of breast cancer, or
• Known familiarity with carriers of pathogenic variants for genes included in the CanRisk model (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1), or
• Known carriers of pathogenic variants for genes included in the CanRisk model (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1)
• Affected women with:
• Diagnosis of unilateral breast cancer
• Personal history of ovarian cancer

You may not qualify if…

• Diagnosis or history of bilateral breast cancer
• Diagnosis of ductal carcinoma in situ
• 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
• Carriers or relatives of carriers of pathogenic variants in genes not included in the CanRisk model (genes other than BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1)
• Inability to provide informed consent

Where it is running

• Policlinico Universitario Fondazione Agostino Gemelli — Roma, Italy (enrolling)

Full record on ClinicalTrials.gov

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