Personalised Risk-based Breast Cancer Prevention and Screening

Tartu University Hospital

Status: Unknown

Conditions: Breast Cancer

Treatments: Diagnostic Test: Mammography outside official screening

Study type: Interventional

Funder types: Other

Identifiers

NCT03989258

estPerMed 1, Breast

Details and patient eligibility

About

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.

Enrollment: 28,389 estimated patients

Sex: Female

Ages: 25+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Screening

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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28,389 participants in 3 patient groups

Cohort 1

Active Comparator group

Description:

High monogenic breast cancer risk

Treatment:

Diagnostic Test: Mammography outside official screening

Cohort 2

Active Comparator group

Description:

High polygenic breast cancer risk

Treatment:

Diagnostic Test: Mammography outside official screening

Cohort StMG

No Intervention group

Description:

Standard mammography screening in age 50-69