Genetic Risk Estimations for Influencing Decision Making in Women at High Risk of Breast Cancer, GENRE 2 Study

NCT04474834 | Active Not Recruiting

• 2 other identifiers: 19-003085NCI-2022-02838
• Study Type: observational
• Target: 737
• Locations: 1 country
• Sites: 5

Brief 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.

Conditions

Breast Cancer

Keywords

BCRAT; IBIS; Breast Cancer; BRCA1; BRCA2; BRCA; BRCA 1/2; Tyrer-Cuzick; CEDM; PRS

Outcome Measures

Primary Outcomes (1)

• Patient self-reported intention to take a breast cancer preventing medication

  up to 6 months after initial consultation

Secondary Outcomes (3)

• Proportion of patients who are taking preventative medications each year for 10 years

  Each year for up to 10 years

• Endocrine related quality of life scores each year for 10 years

  Each year for up to 10 years

• Proportion of patient who are pursuing supplemental screening for 10 years

  Each year for up to 10 years

Study Arms (1)

PRS

Providing polygenic risk score (PRS)

Genetic: Polygenic Risk Score

Interventions

Polygenic Risk Score GENETIC

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 %).

PRS

Eligibility Criteria

• Age: 35 Years - 75 Years
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Women \>= 35 years old and =\< 75 years old with at least one of the following:
• A National Cancer Institute (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 United States (US) Preventative Services Task Force
• IBIS (Tyrer-Cuzik) score for the 10 year risk of breast cancer of \>= 5%
• History atypical ductal hyperplasia or atypical lobular hyperplasia with a BCRAT \>= 3% or IBIS \>= 5%
• History of lobular carcinoma in situ with a BCRAT \>= 3% or IBIS \>= 5% OR
• Women \>= 18 years old or =\< 75 years old with a BRCA 1 or 2 mutation, CHEK 2, PALB 2, ATM, or other hereditary breast mutation carrier per investigator
• Willing and able to provide an email address to receive study surveys
• Able to participate in all aspects of the study
• Understand and sign the study informed consent

You may not qualify if:

• 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
• Women with known contra-indications to Tamoxifen, raloxifene ,exemestane, or anastrazole
• Current or prior use of Tamoxifen, raloxifene, exemestane or anastrazole
• Unable to give informed consent
• Prior history of invasive breast cancer, ductal carcinoma in situ or other breast cancers
• At high risk due to prior radiation therapy to the chest
• Women who are pregnant or breastfeeding
• Prior risk reducing or prophylactic mastectomy
• Unwilling or unable to provide an email address for study surveys to be sent to
• Subject has a known history or any condition or factor judged by the investigator to preclude participation in the study or which might hinder adherence

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (5)

Mayo Clinic

Scottsdale, Arizona, 85259, United States

Location

Mayo Clinic

Jacksonville, Florida, 32224-9980, United States

Location

Northwestern University

Evanston, Illinois, 60208, United States

Location

Mayo Clinic in Rochester

Rochester, Minnesota, 55905, United States

Location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Related Links

• Mayo Clinic Clinical Trials

Biospecimen

Retention: SAMPLES WITH DNA

Participants indicate yes/no on consent form regarding retention of blood samples with DNA for future research.

MeSH Terms

Conditions

Breast Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Sandhya Pruthi, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 14, 2020
• First Posted: July 17, 2020
• Study Start: October 17, 2019
• Primary Completion (Estimated): December 15, 2029
• Study Completion (Estimated): December 15, 2029
• Last Updated: March 5, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (5)