Personalised Risk-based Breast Cancer Prevention and Screening

Breast Cancer Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03989258
• Other study ID #: estPerMed 1, Breast
• Status: Recruiting
• Phase: N/A
• Start date: October 1, 2018
• Est. completion date: December 2020

Study information

• Verified date: June 2019
• Source: Tartu University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 28389
• Est. completion date: December 2020
• Est. primary completion date: December 2020
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 25 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Breast Cancer
• Breast Neoplasms

Intervention

Diagnostic Test:
• Mammography outside official screening
Radiologic study

Locations

Country	Name	City	State
Estonia	The North Estonia Medical Centre	Tallinn
Estonia	Tartu University Hospital	Tartu	Tartumaa

Sponsors (3)

Lead Sponsor	Collaborator
Tartu University Hospital	North Estonia Medical Centre, University of Tartu

Country where clinical trial is conducted

Estonia, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Proportion of women in the population with genetically higher risk for breast cancer		3 years
Secondary	Number of screen-detected breast cancers in different risk groups		3-years