NCT03989258

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
28,389

participants targeted

Target at P75+ for not_applicable breast-cancer

Timeline
Completed

Started Oct 2018

Geographic Reach
1 country

2 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 2018

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

June 14, 2019

Completed
4 days until next milestone

First Posted

Study publicly available on registry

June 18, 2019

Completed
1.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2020

Completed
Last Updated

June 20, 2019

Status Verified

June 1, 2019

Enrollment Period

2.2 years

First QC Date

June 14, 2019

Last Update Submit

June 19, 2019

Conditions

Breast Cancer

Keywords

Breast cancerScreeningGenetic riskPolygenic risk score

Outcome Measures

Primary Outcomes (1)

  • Proportion of women in the population with genetically higher risk for breast cancer

    3 years

Secondary Outcomes (1)

  • Number of screen-detected breast cancers in different risk groups

    3-years

Study Arms (3)

Cohort 1

ACTIVE COMPARATOR

High monogenic breast cancer risk

Diagnostic Test: Mammography outside official screening

Cohort 2

ACTIVE COMPARATOR

High polygenic breast cancer risk

Diagnostic Test: Mammography outside official screening

Cohort StMG

NO INTERVENTION

Standard mammography screening in age 50-69

Interventions

Mammography outside official screeningDIAGNOSTIC_TEST

Radiologic study

Cohort 1Cohort 2

Eligibility Criteria

Age25 Years+
Sexfemale
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Tartu University Hospital

Tartu, Tartu, 50406, Estonia

RECRUITING

The North Estonia Medical Centre

Tallinn, 13419, Estonia

RECRUITING

MeSH Terms

Conditions

Breast NeoplasmsGenetic Risk Score

Condition Hierarchy (Ancestors)

Neoplasms by SiteNeoplasmsBreast DiseasesSkin DiseasesSkin and Connective Tissue DiseasesGenetic Predisposition to DiseaseDisease SusceptibilityDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
SCREENING
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Director of the Cancer Center

Study Record Dates

First Submitted

June 14, 2019

First Posted

June 18, 2019

Study Start

October 1, 2018

Primary Completion

December 1, 2020

Study Completion

December 1, 2020

Last Updated

June 20, 2019

Record last verified: 2019-06

Locations

ES(2)