Personalised Risk-based Breast Cancer Prevention and Screening

Implementation of a Model for Personalised Risk-Based Breast Cancer Prevention and Screening


Lead Sponsor: Tartu University Hospital

Collaborator: University of Tartu
North Estonia Medical Centre

Source Tartu University Hospital
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.

Overall Status Recruiting
Start Date 2018-10-01
Completion Date 2020-12-01
Primary Completion Date 2020-12-01
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
Proportion of women in the population with genetically higher risk for breast cancer 3 years
Secondary Outcome
Measure Time Frame
Number of screen-detected breast cancers in different risk groups 3-years
Enrollment 28389

Intervention Type: Diagnostic Test

Intervention Name: Mammography outside official screening

Description: Radiologic study



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.



Minimum Age:

25 Years

Maximum Age:


Healthy Volunteers:


Facility: Status: Contact:
Tartu University Hospital | Tartu, Tartumaa, 50406, Estonia Recruiting Peeter Padrik, MD, PhD +3727319800 [email protected]
The North Estonia Medical Centre | Tallinn, 13419, Estonia Recruiting Vahur Valvere, MD,PhD +3726172304 [email protected]
Location Countries


Verification Date


Responsible Party

Type: Principal Investigator

Investigator Affiliation: Tartu University Hospital

Investigator Full Name: Peeter Padrik

Investigator Title: Director of the Cancer Center

Has Expanded Access No
Condition Browse
Number Of Arms 3
Arm Group

Label: Cohort 1

Type: Active Comparator

Description: High monogenic breast cancer risk

Label: Cohort 2

Type: Active Comparator

Description: High polygenic breast cancer risk

Label: Cohort StMG

Type: No Intervention

Description: Standard mammography screening in age 50-69

Patient Data Undecided
Study Design Info

Allocation: Non-Randomized

Intervention Model: Parallel Assignment

Primary Purpose: Screening

Masking: None (Open Label)

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