Using Polygenic Risk Scores to Improve Breast Cancer Prevention for at-Risk Women

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This feasibility study examines the integration of polygenic risk scores into the CanRisk breast cancer risk model in a real-world clinical setting. It will enroll women with a family history of breast cancer or known carriers of CanRisk genes, assess organizational and patient-centered feasibility, and measure how PRS-informed risk estimates influence prevention planning alongside standard genetic counseling. Blood samples will be used to generate a 313-SNP PRS, which is then incorporated into individualized risk assessments with clinical and family history data. The study focuses on feasibility, acceptance, and satisfaction with the integrated pathway at a single center in Rome, Italy.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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:

  1. Known family history of breast cancer, or
  2. Known familiarity with carriers of pathogenic variants for genes included in the CanRisk model (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1), or
  3. Known carriers of pathogenic variants for genes included in the CanRisk model (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1)
* Affected women with:

  1. Diagnosis of unilateral breast cancer
  2. Personal history of ovarian cancer

Exclusion Criteria:

* 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's running

• Policlinico Universitario Fondazione Agostino Gemelli
  Roma, Italy Recruiting

Study contacts

• Principal investigator: Stefania Boccia, Phd — Life Sciences and Public Health Department, Università Cattolica del Sacro Cuore, Rome, Italy
• Study coordinator: Sara Farina, MD
• Email: sarafarins96@gmail.com
• Phone: 0039 + 0630156808

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.