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

Summary

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

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

Conditions2

Browse More Trials