Clinical Pilot Study for Personalized Risk-based Breast Cancer Screening

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.

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.

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

Questionnaries on experience with the sampling process and feedback on a categorical scale (totally disagree, disagree, neutral, agree, totally agree)

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