Clinical trial · Interventional
Personalised Risk-based Breast Cancer Prevention and Screening
Implementation of a Model for Personalised Risk-Based Breast Cancer Prevention and Screening
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Breast Cancer | Malignant Breast Neoplasm | CURATED_EXACT | 0.92 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Mammography outside official screening | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (3)
- type
- ACTIVE_COMPARATOR
- label
- Cohort 1
- description
- High monogenic breast cancer risk
- interventionNames
- Diagnostic Test: Mammography outside official screening
- type
- ACTIVE_COMPARATOR
- label
- Cohort 2
- description
- High polygenic breast cancer risk
- interventionNames
- Diagnostic Test: Mammography outside official screening
- type
- NO_INTERVENTION
- label
- Cohort StMG
- description
- Standard mammography screening in age 50-69
Primary outcomes (1)
Eligibility
Eligibility (as posted)
- Sex
- Female
- Minimum age
- 25 Years
Show eligibility criteria text
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.
References
Publications (0)
Data not yet available