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

Official record

Identifier

NCT06922708

Recruiting locations

country

Italy

Interventions studied

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

Lead sponsor

Catholic University of the Sacred Heart

Target enrolment

100 participants

Study type

INTERVENTIONAL

Phase

Not applicable

Status

Recruiting

First posted

Apr 10, 2025

Last updated on the registry

Jul 31, 2026

Age

18 Years – 79 Years

Sex

FEMALE

Study contact

The official record lists a study contact. Contact details are published there and are intentionally not copied to this page.

Eligibility criteria

Reproduced verbatim from the official record. Eligibility is decided by the study team, never by this page.

Inclusion Criteria:

* Ability to provide informed consent
* Voluntary consent to participate
* CanRisk score (without PRS) \> 5% (calculated on www.canrisk.org)
* Healthy women with:

  1. Known family history of breast cancer, or
  2. Known family history of genetic conditions associated with increased breast cancer risk (BRCA1, BRCA2, PALB2, CHEK2, ATM, PTEN, TP53, CDH1), or
  3. Known carriers of pathogenic variants (BRCA1, BRCA2, PALB2, CHEK2, ATM, PTEN, TP53, CDH1)
* Affected women with:

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

Exclusion Criteria:

* CanRisk score (without PRS) \< 5% (calculated on www.canrisk.org)
* 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
* Inability to provide informed consent