Clinical Pilot Study for Personalized Risk-based Breast Cancer Screening

Not Applicable

Active, not recruiting

• Conditions: Breast Cancer
• Interventions: Genetic: Polygenetic risk score

• Registration Number: NCT05731453
• Lead Sponsor: Vestre Viken Hospital Trust

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.

Study Timeline

• Study First Submitted: 2023-01-10
• Study Start: 2023-02-01
• Study First Submitted QC: 2023-02-07
• Study First Posted: 2023-02-16
• Status Verified: 2024-05
• Primary Completion: 2024-05-01
• Last Update Submitted: 2024-05-22
• Last Update Posted: 2024-05-23
• Study Completion: 2035-11-11

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: Female
• Target Recruitment: 80

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Polygenetic risk score	Polygenetic risk score	Assessment of polygenetic risk score for breast cancer

Primary Outcome Measures

Name	Time	Method
Assessment of breast cancer risk by polygenetic risk score in the study population	10 years	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

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Vestre Viken Hospital Trust; 🇳🇴 Drammen, Norway