Clinical Pilot Study for Personalized Risk-based Breast Cancer Screening

Study Overview
=================
Brief Summary
-----------------
The study aims to evaluate the impact of implementing population-based genetics testing strategy for breast cancer precision prevention using the polygenic risk score and monogenic pathogenic variant (MPV) testing in the Norwegian healthcare setting.

Detailed Description
-----------------
The study will recruit women age 40-50 referred for clinical mammography at the Vestre Viken Breast Center, with mammographic density BI-RADS a or d. After informed consent, saliva from the participants will be sampled and tested for polygenetic risk score (PRS) for breast cancer. The participants will be recommended future mammographic screening based on the PRS (standard screening, or more frequent/start at earlier age). The participants family history of cancer will be assessed, and if indicated, the participants will be referred for full genetic counselling/testing. The study will follow the women for 10 years for development of breast cancer as well as compliance to the recommended follow-up.

Official Title
-----------------
Clinical Pilot Study for Personalized Risk-based Breast Cancer Screening

Conditions
-----------------
Breast Cancer

Intervention / Treatment
-----------------
* Genetic: Polygenetic risk score


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Women referred for clinical mammography in the Vestre Viken Breast Centre Breast density BI-RADS a or d 40-50 y.o. Exclusion Criteria: Prior history of breast cancer or premalignant breast disease Prior genetic counselling/testing

Ages Eligible for Study
-----------------
Minimum Age: 40 Years
Maximum Age: 50 Years

Sexes Eligible for Study
-----------------
Female

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Screening
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Polygenetic risk score<br>Assessment of polygenetic risk score for breast cancer | Genetic: Polygenetic risk score<br>* Polygenetic risk score assessment for breast cancer<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Assessment of breast cancer risk by polygenetic risk score in the study population | Polygenetic breast cancer risk score (PRS) as a numeric value with 10 percentile, as absolute 10-year breast cancer risk, and as relative risk compared with average women at the same age | 10 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Compliance to individual recommedations for breast cancer screening | Percentage and frequencies of participants following their individual screening recommendations | 10 years | 
| Correlation of polygenetic risk score and breast cancer risk assessed by family history | Distribution of PRS among participants with increased breast cancer risk based on family history | 10 years | 
| Participants´ experience with study participation | Questionnaries on experience with the sampling process and feedback on a categorical scale (totally disagree, disagree, neutral, agree, totally agree) | 10 years | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
risk based screening