Breast CancerPhase 1/2GENRENCT02517593
Genetic Risk Estimation of Breast Cancer Prior to Preventive Medication Uptake
A Phase 1/2 study testing Polygenic Risk Score in people with Breast Cancer, run by Mayo Clinic at 2 sites in 2 countries.
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 standard National Cancer Institute's 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)… 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
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 151 participants
- Where
- 2 sitesin 2 countries
- Study dates
- Mar 2016to 1 Dec 2019
- Phase
- Phase 1/2
- Are there results?
- None posted in the registry
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
Who may be able to join
- Women > 35 years old and < 75 years old
- Women with either of the following:
- 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. Women with a IBIS (Tyrer-Cuzik) score for the 10 year risk of breast cancer of ≥5%
- Able to participate in all aspects of the study
- Understand and signed 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 <5% for the 10 year risk
- Women with known BRCA1 and BRCA2 mutations
- Women with known contra-indications to Tamoxifen, raloxifene or exemestane
- Unable to give informed consent
- Prior history of invasive breast cancer or ductal carcinoma in situ
- At risk due to prior radiation therapy to the chest
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
United States1 site
Mayo Clinic in Rochester
Rochester, Minnesota, 55905
About this study
Official title: Genetic Risk Estimation of Breast Cancer Prior to Preventive Medication Uptake: A Pilot Study to Determine if a Polygenic Risk Score Influences the Decision to Accept Breast Cancer Preventive Medications (Tamoxifen, Raloxifene, or Exemestane) Amongst Non-BRCA Women at Risk
The primary aim of this study is to determine if the addition of an individual polygenic risk score (PRS), in addition to the standard National Cancer Institute's 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 trial is a prospective pilot study looking to integrate a novel and retrospectively validated polygenic risk score (PRS), based on 77 Single Nucleotide Polymorphisms (SNPs), into a standard breast cancer prevention consultation for non-BRCA women. In order to be eligible for trial participation, women will need to have a BCRAT estimate of ≥3% for the 5 year risk of developing breast cancer (which corresponds to the United States Preventative Services Task Force threshold for moderate to strong benefit from breast cancer preventing medications such as tamoxifen or raloxifene.
At the time of the breast cancer prevention consultation, women will be offered participation in this study by a clinical trials nurse and informed written consent will be obtained. For consenting patients, a single 7 to 10 ml blood sample will be taken and couriered to the MAYO clinic for sample analysis and several surveys will be administered. One of the surveys will assess the participants understanding and intention to take or not take breast cancer preventing medications. The decision to take or not take a breast cancer preventing medication will be deferred until a subsequent follow up visit.
On the second visit, the PRS test results will be reviewed with the patient and a recommendation regarding preventive medications will be made. The PRS score will risk stratify patients into one of three lifetime risk categories of developing breast cancer (low risk (<15 % lifetime risk), above average risk (15 to <40% risk) and high risk (>40%)). Participants will then answer a second survey in which their understanding of their breast cancer risk and intention to take breast cancer preventing medications will be assessed.
- Conditions
- Breast Cancer
- Being tested
- Polygenic Risk Score
- Keywords
- BCRAT, IBIS, PRS, breast cancer, Tyrer-Cuzick
- 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
Also called PRS
A Polygenic Risk Score (PRS) is a blood based genetic test which assesses 77 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 | Other | 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 (4)
Proportion of patients who are taking preventive medications at year 1
Measured: 1 year
Proportion of patients who are taking preventive medications at year 2
Measured: 2 years
Endocrine related quality of life scores at 1 year
Functional Assessment of Cancer Therapy (FACT) - Endocrine Subscale Quality of Life Tool
Measured: 1 year
Endocrine related quality of life scores at 2 years
Functional Assessment of Cancer Therapy (FACT) - Endocrine Subscale Quality of Life Tool
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Aug 2015 (estimated)
- Study startMar 2016
- Primary completion1 Dec 2019
- Study completion1 Dec 2019
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
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 151 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Collaborators
- CancerCare Manitoba
- Responsible party
- Principal investigator, Sandhya Pruthi, M.D., Mayo Clinic
- Investigators
- Sandhya Pruthi, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02517593
- Sponsor's protocol ID
- 15-006204
- Other IDs
- CCM-003
- Acronym
- GENRE
- Status last verified
- Dec 2020
- First submitted
- 31 Jul 2015
- Last updated
- 30 Dec 2020
- 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 30 Dec 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Risk Estimation of Breast Cancer Prior to Preventive Medication Uptake: A Pilot Study to Determine if a Polygenic Risk Score Influences the Decision to Accept Breast Cancer Preventive Medications (Tamoxifen, Raloxifene, or Exemestane) Amongst Non-BRCA Women at Risk
- ClinicalTrials.gov ID
- NCT02517593
- Acronym / sponsor ID
- GENRE / 15-006204
- Conditions
- Breast Cancer
- Keywords
- BCRAT, IBIS, PRS, breast cancer, Tyrer-Cuzick
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 151 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- CancerCare Manitoba
- Study start
- Mar 2016
- Primary completion
- 1 Dec 2019 (actual)
- Study completion
- 1 Dec 2019 (actual)
- First posted
- 7 Aug 2015 (estimated)
- 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 standard National Cancer Institute's 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 trial is a prospective pilot study looking to integrate a novel and retrospectively validated polygenic risk score (PRS), based on 77 Single Nucleotide Polymorphisms (SNPs), into a standard breast cancer prevention consultation for non-BRCA women. In order to be eligible for trial participation, women will need to have a BCRAT estimate of ≥3% for the 5 year risk of developing breast cancer (which corresponds to the United States Preventative Services Task Force threshold for moderate to strong benefit from breast cancer preventing medications such as tamoxifen or raloxifene.
At the time of the breast cancer prevention consultation, women will be offered participation in this study by a clinical trials nurse and informed written consent will be obtained. For consenting patients, a single 7 to 10 ml blood sample will be taken and couriered to the MAYO clinic for sample analysis and several surveys will be administered. One of the surveys will assess the participants understanding and intention to take or not take breast cancer preventing medications. The decision to take or not take a breast cancer preventing medication will be deferred until a subsequent follow up visit.
On the second visit, the PRS test results will be reviewed with the patient and a recommendation regarding preventive medications will be made. The PRS score will risk stratify patients into one of three lifetime risk categories of developing breast cancer (low risk (<15 % lifetime risk), above average risk (15 to <40% risk) and high risk (>40%)). Participants will then answer a second survey in which their understanding of their breast cancer risk and intention to take breast cancer preventing medications will be assessed.
Study design
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| PRS | Other | 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
Key inclusion criteria (5 listed)
- Women > 35 years old and < 75 years old
- Women with either of the following:
- Able to participate in all aspects of the study
- Understand and signed the study informed consent
Key exclusion criteria (6 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 <5% for the 10 year risk
- Women with known BRCA1 and BRCA2 mutations
- Women with known contra-indications to Tamoxifen, raloxifene or exemestane
- Unable to give informed consent
- Prior history of invasive breast cancer or ductal carcinoma in situ
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 ScoreAlso: PRSA Polygenic Risk Score (PRS) is a blood based genetic test which assesses 77 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
4 secondary outcomes
Proportion of patients who are taking preventive medications at year 1
Time frame: 1 year
Proportion of patients who are taking preventive medications at year 2
Time frame: 2 years
Endocrine related quality of life scores at 1 year
Time frame: 1 year
Endocrine related quality of life scores at 2 years
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Dec 2020.
- 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
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Polygenic Risk Score in people with Breast Cancer, run by Mayo Clinic at 2 sites in 2 countries.
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 5 inclusion and 6 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: finished, as of the sponsor's last update on 30 Dec 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, Canada. 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.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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 30 Dec 2020.