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Personalised Risk-based Breast Cancer Prevention and Screening

Primary Purpose

Breast Cancer

Status
Unknown status
Phase
Not Applicable
Locations
Estonia
Study Type
Interventional
Intervention
Mammography outside official screening
Sponsored by
Tartu University Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional screening trial for Breast Cancer focused on measuring Breast cancer, Screening, Genetic risk, Polygenic risk score

Eligibility Criteria

25 Years - undefined (Adult, Older Adult)FemaleDoes not accept 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.

Sites / Locations

  • Tartu University HospitalRecruiting
  • The North Estonia Medical CentreRecruiting

Arms of the Study

Arm 1

Arm 2

Arm 3

Arm Type

Active Comparator

Active Comparator

No Intervention

Arm Label

Cohort 1

Cohort 2

Cohort StMG

Arm Description

High monogenic breast cancer risk

High polygenic breast cancer risk

Standard mammography screening in age 50-69

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

Number of screen-detected breast cancers in different risk groups

Full Information

First Posted
June 14, 2019
Last Updated
June 19, 2019
Sponsor
Tartu University Hospital
Collaborators
University of Tartu, North Estonia Medical Centre
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1. Study Identification

Unique Protocol Identification Number
NCT03989258
Brief Title
Personalised Risk-based Breast Cancer Prevention and Screening
Official Title
Implementation of a Model for Personalised Risk-Based Breast Cancer Prevention and Screening
Study Type
Interventional

2. Study Status

Record Verification Date
June 2019
Overall Recruitment Status
Unknown status
Study Start Date
October 1, 2018 (Actual)
Primary Completion Date
December 2020 (Anticipated)
Study Completion Date
December 2020 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Tartu University Hospital
Collaborators
University of Tartu, North Estonia Medical Centre

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Breast Cancer
Keywords
Breast cancer, Screening, Genetic risk, Polygenic risk score

7. Study Design

Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
28389 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Cohort 1
Arm Type
Active Comparator
Arm Description
High monogenic breast cancer risk
Arm Title
Cohort 2
Arm Type
Active Comparator
Arm Description
High polygenic breast cancer risk
Arm Title
Cohort StMG
Arm Type
No Intervention
Arm Description
Standard mammography screening in age 50-69
Intervention Type
Diagnostic Test
Intervention Name(s)
Mammography outside official screening
Intervention Description
Radiologic study
Primary Outcome Measure Information:
Title
Proportion of women in the population with genetically higher risk for breast cancer
Time Frame
3 years
Secondary Outcome Measure Information:
Title
Number of screen-detected breast cancers in different risk groups
Time Frame
3-years

10. Eligibility

Sex
Female
Minimum Age & Unit of Time
25 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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.
Facility Information:
Facility Name
Tartu University Hospital
City
Tartu
State/Province
Tartumaa
ZIP/Postal Code
50406
Country
Estonia
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Peeter Padrik, MD, PhD
Phone
+3727319800
Email
peeter.padrik@kliinikum.ee
Facility Name
The North Estonia Medical Centre
City
Tallinn
ZIP/Postal Code
13419
Country
Estonia
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Vahur Valvere, MD,PhD
Phone
+3726172304
Email
vahur.valvere@regionaalhaigla.ee

12. IPD Sharing Statement

Plan to Share IPD
Undecided

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Personalised Risk-based Breast Cancer Prevention and Screening

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