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

ConditionBreast Cancer
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexFemale
Age18-79
SponsorCatholic University of the Sacred Heart

About this trial

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.

Eligibility criteria

Qualifiers

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)

Known family history of breast cancer, or

Disqualifiers

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

Trial design

Treatments tested in this trial

  • Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment

Treatment groups

100 Participants
are divided into 1 treatment group