Breast Cancer
Conditions
Keywords
risk based screening
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.
Interventions
GENETICPolygenetic risk score
Polygenetic risk score assessment for breast cancer
Sponsors
Oslo University Hospital
Vestre Viken Hospital Trust
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
40 Years to 50 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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) |
Countries
Norway
Outcome results
None listed