Breast Cancer
Conditions
Keywords
Breast cancer, Screening, Genetic risk, Polygenic risk score
Brief summary
This is a cohort study, applied research and T3 translational genomics to estimate the impact of genetic risk for breast cancer detection in the screening program. The study group base consists of 28 389 female participants, currently in the age-group 22-79, in the Biobank of Estonian Genome Centre. The study is aimed to demonstrate the usability of personalised approach for adjusting and stratifying screening recommendations, based on predicted genetic risk estimates for breast cancer in the situation, where the genome data could be available from all women who have given informed consent for that. The project includes both the detection of moderate and high hereditary breast cancer risk carriers as well as high risk polygenic risk-score (consisting several single nucleotide polymorphisms) carriers among healthy individuals for application of personalised prevention and screening strategies.
Interventions
DIAGNOSTIC_TESTMammography outside official screening
Radiologic study
Sponsors
University of Tartu
North Estonia Medical Centre
Tartu University Hospital
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
25 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Cohort 1: * Available NGS (WGS or WES) data for detection of breast cancer moderate to high genetic risk variants in BRCA1, BRCA2, TP53, STK11, PTEN, CDH1, ATM, PALB2, CHEK2, NBN, NF1 genes; * Available genetic (WGS, genotyping) data for PRS calculation, participants in age 40-74 will be further selected; Cohort 2: * Available genotyping data; * No available NGS data for BRCA1, BRCA2, TP53, STK11, PTEN, CDH1, ATM, PALB2, CHEK2, NBN, NF1 genes; * Participants in the age group 40-74 with available genetic data for PRS calculation; Cohort StMG: • Female participants in Estonian Biobank in the age group 50-69 participating at least once in the current Estonian population-based screening program during 2016-2020.
Exclusion criteria
Cohort 1: breast cancer in the medical history; Cohort 2: breast cancer in the medical history. Cohort StMG: none.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Proportion of women in the population with genetically higher risk for breast cancer | 3 years |
Secondary
| Measure | Time frame |
|---|---|
| Number of screen-detected breast cancers in different risk groups | 3-years |
Countries
Estonia
Outcome results
None listed