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