GENetic Risk Estimation of Breast Cancer Prior to Decisions on Preventive Therapy Uptake, Risk Reducing Surgery or Intensive Imaging Surveillance (GENRE2)

September 18, 2023 updated by: Sandhya Pruthi, M.D., Mayo Clinic

GENetic Risk Estimation of Breast Cancer Prior to Decisions on Preventive Therapy Uptake, Risk Reducing Surgery or Intensive Imaging Surveillance: A Study to Determine if a Polygenic Risk Score Influences the Decision Making Options Amongst High Risk Women (GENRE 2)

The primary aim of this study is to determine if the addition of an individual polygenic risk score (PRS) in addition to the Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS) score will aid women at risk of breast cancer in making a decision to take (or not take) medications to prevent breast cancer.

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

Detailed Description

This is a minimal risk prospective multisite study with a single arm incorporating the PRS into a standard breast cancer risk reduction consultation, followed by annual surveys over 10 years to determine if and how the availability of the PRS influenced patient decisions regarding preventive medicine and medication compliance. Because women know beforehand that the PRS is pending, study participants will be advised that a final decision to take preventive medicine must be deferred until after the PRS results are made available. Nevertheless, a survey of understanding of risk and benefit and assessment of willingness to take preventive medicine will be done prior to receiving the PRS results and then another survey will be completed after receiving the PRS score.

Study Type

Observational

Enrollment (Estimated)

900

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Arizona
      • Scottsdale, Arizona, United States, 85259
        • Mayo Clinic
    • Florida
      • Jacksonville, Florida, United States, 32224-9980
        • Mayo Clinic
    • Illinois
      • Evanston, Illinois, United States, 60208
        • Northwestern University
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic in Rochester
    • Ohio
      • Cleveland, Ohio, United States, 44195
        • Cleveland Clinic

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

35 years to 75 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Women attending the Mayo Clinic Breast Cancer clinics in Rochester, Arizona and Florida or the Mayo Clinic Health System in Austin or Albert Lea who meet eligibility criteria will be offered participation in this study after initial clinical calculation of the BCRAT or IBIS score and counseling as to the advisability of preventive therapy.

Description

Inclusion Criteria:

  1. Women > 35 years old and < 75 years old
  2. Women with any of the following:

    A. A NCI-BCRAT 5 year risk of ≥ 3% which corresponds to the level in which there is moderate evidence of treatment benefit outweighing risk according to the US Preventative Services Task Force (32); or B. IBIS (Tyrer-Cuzik) score for the 10 year risk of breast cancer of ≥8% 43 C. Biopsy proven atypical ductal hyperplasia or atypical lobular hyperplasia. D. History of lobular carcinoma in situ E. BRCA mutation carrier or other hereditary breast mutation carrier

  3. Able to participate in all aspects of the study
  4. Understand and signed the study informed consent

Exclusion Criteria:

  1. Women whose BCRAT falls below the threshold (<3 % 5 year risk) of moderate benefit according to the US Preventative Task Force AND Women whose IBIS score is <8% for the 10 year risk
  2. Women with known contra-indications to Tamoxifen, raloxifene ,exemestane, or anastrazole
  3. Current or prior use of Tamoxifen, raloxifene, exemestane or anastrazole
  4. Unable to give informed consent
  5. Prior history of invasive breast cancer, ductal carcinoma in situ or other breast cancers
  6. At high risk due to prior radiation therapy to the chest
  7. Women who are pregnant or breastfeeding
  8. Prior risk reducing or prophylactic mastectomy

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
PRS
Providing polygenic risk score (PRS)
A Polygenic Risk Score (PRS) is a blood based genetic test which assesses 300 common breast cancer susceptibility loci (Single Nucleotide Polymorphisms). The PRS has been retrospectively validated and categorizes women into three categories of lifetime risk of developing breast cancer: Low Risk (<15% lifetime risk), Above Average Risk (15 to 40%), and high risk (>40 %).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Patient self-reported intention to take a breast cancer preventing medication
Time Frame: up to 6 months after initial consultation
up to 6 months after initial consultation

Secondary Outcome Measures

Outcome Measure
Time Frame
Proportion of patients who are taking preventative medications each year for 10 years
Time Frame: Each year for up to 10 years
Each year for up to 10 years
Endocrine related quality of life scores each year for 10 years
Time Frame: Each year for up to 10 years
Each year for up to 10 years
Proportion of patient who are pursuing supplemental screening for 10 years
Time Frame: Each year for up to 10 years
Each year for up to 10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Investigators

  • Principal Investigator: Sandhya Pruthi, MD, Mayo Clinic

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 17, 2019

Primary Completion (Estimated)

December 15, 2029

Study Completion (Estimated)

December 15, 2029

Study Registration Dates

First Submitted

July 14, 2020

First Submitted That Met QC Criteria

July 14, 2020

First Posted (Actual)

July 17, 2020

Study Record Updates

Last Update Posted (Actual)

September 21, 2023

Last Update Submitted That Met QC Criteria

September 18, 2023

Last Verified

September 1, 2023

More Information

Terms related to this study

Other Study ID Numbers

  • 19-003085

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Breast Cancer

Clinical Trials on Polygenic Risk Score

3
Subscribe