Breast CancerGENRE2NCT04474834
Genetic Risk Estimations for Influencing Decision Making in Women at High Risk of Breast Cancer, GENRE 2 Study
An observational study of Breast Cancer, run by Mayo Clinic at 5 sites in United States.
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. Read more about this study
- Who is it for?
- Ages 35 to 75 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Breast Cancer
- What is being tested?
- Polygenic Risk Score
- How many people
- 737 participants
- Where
- 5 sitesUnited States
- Study dates
- 17 Oct 2019to 15 Dec 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 35 to 75 years
- Women only
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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
Show all 9Show fewer
- 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
Who cannot join
- 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
Show all 10Show fewer
- 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
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
Cleveland Clinic
Cleveland, Ohio, 44195
Northwestern University
Evanston, Illinois, 60208
Mayo Clinic
Jacksonville, Florida, 32224-9980
Mayo Clinic in Rochester
Rochester, Minnesota, 55905
Mayo Clinic
Scottsdale, Arizona, 85259
About this study
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)
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.
Read the 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.
- Conditions
- Breast Cancer
- Being tested
- Polygenic Risk Score
- Keywords
- BCRAT, IBIS, Breast Cancer, BRCA1, BRCA2, BRCA, BRCA 1/2, Tyrer-Cuzick, CEDM, PRS
- Medical subject headings
- Breast Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Polygenic Risk ScoreGenetic
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 %).
| Study group | Role | What they receive |
|---|---|---|
| PRS | Providing polygenic risk score (PRS) Receives: Genetic: Polygenic Risk Score |
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient self-reported intention to take a breast cancer preventing medication
Measured: up to 6 months after initial consultation
Secondary outcomes (3)
Proportion of patients who are taking preventative medications each year for 10 years
Measured: Each year for up to 10 years
Endocrine related quality of life scores each year for 10 years
Measured: Each year for up to 10 years
Proportion of patient who are pursuing supplemental screening for 10 years
Measured: Each year for up to 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jul 2020
- Study start17 Oct 2019
- Primary completion15 Dec 2029 (estimated)
- Study completion15 Dec 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast CancerStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 737 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sandhya Pruthi, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04474834
- Sponsor's protocol ID
- 19-003085
- Other IDs
- NCI-2022-02838
- Acronym
- GENRE2
- Status last verified
- Mar 2026
- First submitted
- 14 Jul 2020
- Last updated
- 5 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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)
- ClinicalTrials.gov ID
- NCT04474834
- Acronym / sponsor ID
- GENRE2 / 19-003085
- Conditions
- Breast Cancer
- Keywords
- BCRAT, IBIS, Breast Cancer, BRCA1, BRCA2, BRCA, BRCA 1/2, Tyrer-Cuzick
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 737 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 17 Oct 2019 (actual)
- Primary completion
- 15 Dec 2029 (estimated)
- Study completion
- 15 Dec 2029 (estimated)
- First posted
- 17 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| PRS | – | Genetic: Polygenic Risk ScoreProviding polygenic risk score (PRS) |
Who may qualify
- Ages
- 35 to 75 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (9 listed)
- Women >= 35 years old and =< 75 years old with at least one of the following:
- 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
Key exclusion criteria (10 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Polygenic Risk ScoreA 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 %). | Genetic | PRS |
Primary outcome
Patient self-reported intention to take a breast cancer preventing medication
Time frame: up to 6 months after initial consultation
3 secondary outcomes
Proportion of patients who are taking preventative medications each year for 10 years
Time frame: 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
Proportion of patient who are pursuing supplemental screening for 10 years
Time frame: Each year for up to 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Mar 2026.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sandhya Pruthi, MD principal investigator
Mayo Clinic
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Breast Cancer, run by Mayo Clinic at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 5 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patient self-reported intention to take a breast cancer preventing medication (time frame: up to 6 months after initial consultation). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Mar 2026.