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

Breast Cancer Clinical Trial

— GENRE2  

Official title:

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)

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT04474834
• Other study ID #: 19-003085
• Status: Enrolling by invitation
• Start date: October 17, 2019
• Est. completion date: December 15, 2029

Study information

• Verified date: September 2023
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 900
• Est. completion date: December 15, 2029
• Est. primary completion date: December 15, 2029
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 35 Years to 75 Years

Eligibility

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

Related Conditions & MeSH terms

• Breast Cancer
• Breast Neoplasms

Intervention

Genetic:
• Polygenic Risk Score
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 %).

Locations

Country	Name	City	State
United States	Cleveland Clinic	Cleveland	Ohio
United States	Northwestern University	Evanston	Illinois
United States	Mayo Clinic	Jacksonville	Florida
United States	Mayo Clinic in Rochester	Rochester	Minnesota
United States	Mayo Clinic	Scottsdale	Arizona

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Patient self-reported intention to take a breast cancer preventing medication		up to 6 months after initial consultation
Secondary	Proportion of patients who are taking preventative medications each year for 10 years		Each year for up to 10 years
Secondary	Endocrine related quality of life scores each year for 10 years		Each year for up to 10 years
Secondary	Proportion of patient who are pursuing supplemental screening for 10 years		Each year for up to 10 years

External Links

•   Mayo Clinic Clinical Trials