Personalised Risk-based Breast Cancer Prevention and Screening

Not Applicable

• Conditions: Breast Cancer
• Interventions: Diagnostic Test: Mammography outside official screening

• Registration Number: NCT03989258
• Lead Sponsor: 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2018-10-01
• Status Verified: 2019-06
• Study First Submitted: 2019-06-14
• Study First Submitted QC: 2019-06-14
• Study First Posted: 2019-06-18
• Last Update Submitted: 2019-06-19
• Last Update Posted: 2019-06-20
• Primary Completion: 2020-12
• Study Completion: 2020-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Female
• Target Recruitment: 28389

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.

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Exclusion Criteria

Cohort 1: breast cancer in the medical history; Cohort 2: breast cancer in the medical history. Cohort StMG: none.

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Cohort 1	Mammography outside official screening	High monogenic breast cancer risk
Cohort 2	Mammography outside official screening	High polygenic breast cancer risk

Primary Outcome Measures

Name	Time	Method
Proportion of women in the population with genetically higher risk for breast cancer	3 years

Secondary Outcome Measures

Name	Time	Method
Number of screen-detected breast cancers in different risk groups	3-years

Trial Locations

Locations (2)

Tartu University Hospital; 🇪🇪 Tartu, Tartumaa, Estonia

The North Estonia Medical Centre; 🇪🇪 Tallinn, Estonia