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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

900 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-10-17

Study Completion Date

2029-12-15

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Breast Cancer

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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PRS

Providing polygenic risk score (PRS)

Polygenic Risk Score

Intervention Type 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 %).

Interventions

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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 %).

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

* 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

Minimum Eligible Age

35 Years

Maximum Eligible Age

75 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes