Breast Atypical Ductal HyperplasiaNCT05755269
Adding a Genetic Risk Evaluation to Standard Breast Cancer Risk Assessment for African American and Hispanic Women
An observational study of Breast Atypical Ductal Hyperplasia and Breast Atypical Lobular Hyperplasia, run by Mayo Clinic at 1 site in United States.
Trial summary
This study evaluates whether adding a polygenic risk score evaluation to standard breast cancer risk assessment tools helps African American and Hispanic women make more informed decisions about accepting additional breast cancer screening and prevention strategies. Read more about this study
- Who is it for?
- Ages 30 to 75 years, women only
- Conditions the study is for
- Breast Atypical Ductal Hyperplasia, Breast Atypical Lobular Hyperplasia, Breast Carcinoma
- What is being tested?
- Biospecimen Collection, Genotyping and Survey Administration
- Type of treatment
- Surgery or procedure
- How many people
- 19 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Mar 2023to 31 Dec 2025
- Phase
- Observational
- 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 30 to 75 years
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: African American/Black or Hispanic/Latinx women attending the Mayo Clinic Breast Center.
Who may be able to join
- Women who self-identify as African American/Black or Hispanic/Latinx
- Women >= 30 years old and =< 75 years old
- Women with any of the following:
- IBIS (Tyrer-Cuzik) score of >= 5% for the 10 year risk OR
- BCRAT (Gail Model) score of > 3 % for the 5 year risk
- History of biopsy proven atypical ductal hyperplasia or atypical lobular hyperplasia (with risk calculator assessment A and B)
Show all 9Show fewer
- History of biopsy proven lobular carcinoma in situ (with risk calculator assessment A and B)
- Able to participate in all aspects of the study
- Understand and signed the study informed consent
Who cannot join
- Women whose calculated risk for breast cancer falls below the threshold
- Unable to give informed consent
- Prior history of invasive breast cancer, ductal carcinoma in situ or other breast cancers
- Women who are pregnant or breastfeeding
- Prior use of prevention drugs for longer than 6 months
- Prior risk reducing or prophylactic mastectomy
- Known pathogenic genetic mutation linked to breast cancer (such as BRCA 1/2, PALB2, ATM, CHEK2)
Trial locations and contacts
1 site in 1 country.
United States1 site
Mayo Clinic in Florida
Jacksonville, Florida, 32224-9980
About this study
Official title: Genetic Risk Estimation in Breast Cancer and Assessing Health Disparities
This study evaluates whether adding a polygenic risk score evaluation to standard breast cancer risk assessment tools helps African American and Hispanic women make more informed decisions about accepting additional breast cancer screening and prevention strategies. Traditional breast cancer risk assessments rely mostly on the presence of standard clinical risk factors including family history, reproductive history, and mammographic breast density. This information can be combined with validated risk estimation models to provide a measure of a patient's 10 year and lifetime risk for breast cancer. A polygenic risk score helps to estimate breast cancer risk in a more individualized way by evaluating a patient's genetics. Adding a polygenic risk score evaluation to traditional screening techniques may help minority women make more informed decisions about screening and prevention strategies for breast cancer.
Read the detailed description
PRIMARY OBJECTIVES:
- To explore if the addition of an individual polygenic risk score (PRS) to the Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS) score will improve intentions to adhere to recommended breast cancer screening strategies such as mammography, magnetic resonance imaging (MRI), or molecular breast Imaging in women of underserved racial minorities.
II. To explore if the addition of the PRS to the BCRAT or IBIS risk score will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities.
III. To understand how individualized risk assessment and information on PRS may alter perceived risk of breast cancer.
IV. To follow this cohort of women over 10 years to determine subsequent outcomes in regards to diagnoses of at-risk lesions or cancer.
OUTLINE: This is an observational study.
Patients complete a survey and undergo collection of a blood sample for PRS genotyping at baseline. Patients receive their PRS results and complete another survey 6 weeks to 6 months after baseline and then complete surveys annually over 10 years on study.
- Conditions
- Breast Atypical Ductal Hyperplasia, Breast Atypical Lobular Hyperplasia, Breast Carcinoma, Breast Lobular Carcinoma In Situ
- Being tested
- Biospecimen Collection, Genotyping, Survey Administration
- Medical subject headings
- Carcinoma, Intraductal, Noninfiltrating, Breast Neoplasms, Breast Carcinoma In Situ
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biospecimen CollectionProcedure or surgery
Also called Biological Sample Collection, Biospecimen Collected, Specimen Collection
Undergo collection of blood samples
GenotypingProcedure or surgery
Also called GENOTYPE, Genotype Analysis, Genotype Assay
Undergo genotyping
Survey AdministrationOther
Complete surveys
| Study group | Role | What they receive |
|---|---|---|
| Observational (blood collection, genotyping, surveys) | Patients complete a survey and undergo collection of a blood sample for PRS genotyping at baseline. Patients receive their PRS results and complete another survey 6 weeks to 6 months after baseline and then complete surveys annually over 10 years on study. Receives: Procedure: Biospecimen Collection; Procedure: Genotyping; Other: Survey Administration |
What is being measured
The primary outcome is the main question the study is designed to answer.
Whether the addition of an individual polygenic risk score (PRS) to the Breast Cancer Risk Assessment Tool (BCRAT) will improve intentions to adhere to recommended breast cancer screening strategies
Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Measured: Up to 10 years
Whether the addition of an individual polygenic risk score (PRS) to the Tyrer-Cuzick (IBIS) score will improve intentions to adhere to recommended breast cancer screening strategies
Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Measured: Up to 10 years
Whether the addition of the PRS to the BCRAT will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities
PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Measured: Up to 10 years
Whether the addition of the PRS to the IBIS risk score will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities
PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Measured: Up to 10 years
How individualized risk assessment on PRS may alter perceived risk of breast cancer
PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Will use the R package Individualized Coherent Absolute Risk Estimators (iCare) a tool that allows researchers to quickly build models for absolute risk and apply them to estimate individuals' risk based on a set of user defined input. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Measured: Up to 10 years
How individualized information on PRS may alter perceived risk of breast cancer
The information used to calculate risk based on either the BCRAT or IBIS models accounts for known risk factors other than the PRS, creating a baseline hazard rate for each woman. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Measured: Up to 10 years
Long-term cumulative risk of cancer for the at-risk lesion
Kaplan-Meier method will be used to estimate the long-term cumulative risk of cancer for the at-risk lesion.
Measured: 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 posted6 Mar 2023
- Study start14 Mar 2023
- Primary completion31 Dec 2025
- Study completion31 Dec 2025
Why it stopped: Lack of funding
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast Atypical Ductal HyperplasiaStudies 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
- 19 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sabrina Sahni, M.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05755269
- Sponsor's protocol ID
- MC220303
- Other IDs
- 22-003513
- Status last verified
- Apr 2026
- First submitted
- 14 Feb 2023
- Last updated
- 1 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Risk Estimation in Breast Cancer and Assessing Health Disparities
- ClinicalTrials.gov ID
- NCT05755269
- Acronym / sponsor ID
- MC220303
- Conditions
- Breast Atypical Ductal Hyperplasia, Breast Atypical Lobular Hyperplasia, Breast Carcinoma, Breast Lobular Carcinoma In Situ
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Lack of funding
- Enrolment
- 19 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 14 Mar 2023 (actual)
- Primary completion
- 31 Dec 2025 (actual)
- Study completion
- 31 Dec 2025 (actual)
- First posted
- 6 Mar 2023 (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.
This study evaluates whether adding a polygenic risk score evaluation to standard breast cancer risk assessment tools helps African American and Hispanic women make more informed decisions about accepting additional breast cancer screening and prevention strategies. Traditional breast cancer risk assessments rely mostly on the presence of standard clinical risk factors including family history, reproductive history, and mammographic breast density. This information can be combined with validated risk estimation models to provide a measure of a patient's 10 year and lifetime risk for breast cancer. A polygenic risk score helps to estimate breast cancer risk in a more individualized way by evaluating a patient's genetics. Adding a polygenic risk score evaluation to traditional screening techniques may help minority women make more informed decisions about screening and prevention strategies for breast cancer.
Detailed description
PRIMARY OBJECTIVES:
- To explore if the addition of an individual polygenic risk score (PRS) to the Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS) score will improve intentions to adhere to recommended breast cancer screening strategies such as mammography, magnetic resonance imaging (MRI), or molecular breast Imaging in women of underserved racial minorities.
II. To explore if the addition of the PRS to the BCRAT or IBIS risk score will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities.
III. To understand how individualized risk assessment and information on PRS may alter perceived risk of breast cancer.
IV. To follow this cohort of women over 10 years to determine subsequent outcomes in regards to diagnoses of at-risk lesions or cancer.
OUTLINE: This is an observational study.
Patients complete a survey and undergo collection of a blood sample for PRS genotyping at baseline. Patients receive their PRS results and complete another survey 6 weeks to 6 months after baseline and then complete surveys annually over 10 years on study.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Observational (blood collection, genotyping, surveys) | – | Procedure: Biospecimen Collection, Procedure: Genotyping, Other: Survey AdministrationPatients complete a survey and undergo collection of a blood sample for PRS genotyping at baseline. Patients receive their PRS results and complete another survey 6 weeks to 6 months after baseline and then complete surveys annually over 10 years on study. |
Who may qualify
- Ages
- 30 to 75 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- African American/Black or Hispanic/Latinx women attending the Mayo Clinic Breast Center.
Key inclusion criteria (9 listed)
- Women who self-identify as African American/Black or Hispanic/Latinx
- Women >= 30 years old and =< 75 years old
- Women with any of the following:
- Able to participate in all aspects of the study
- Understand and signed the study informed consent
Key exclusion criteria (7 listed)
- Women whose calculated risk for breast cancer falls below the threshold
- Unable to give informed consent
- Prior history of invasive breast cancer, ductal carcinoma in situ or other breast cancers
- Women who are pregnant or breastfeeding
- Prior use of prevention drugs for longer than 6 months
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 |
|---|---|---|
| Biospecimen CollectionAlso: Biological Sample Collection, Biospecimen Collected, Specimen CollectionUndergo collection of blood samples | Procedure or surgery | Observational (blood collection, genotyping, surveys) |
| GenotypingAlso: GENOTYPE, Genotype Analysis, Genotype AssayUndergo genotyping | Procedure or surgery | Observational (blood collection, genotyping, surveys) |
| Survey AdministrationComplete surveys | Other | Observational (blood collection, genotyping, surveys) |
Primary outcome
Whether the addition of an individual polygenic risk score (PRS) to the Breast Cancer Risk Assessment Tool (BCRAT) will improve intentions to adhere to recommended breast cancer screening strategies
Time frame: Up to 10 years
Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Whether the addition of an individual polygenic risk score (PRS) to the Tyrer-Cuzick (IBIS) score will improve intentions to adhere to recommended breast cancer screening strategies
Time frame: Up to 10 years
Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Whether the addition of the PRS to the BCRAT will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities
Time frame: Up to 10 years
PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Whether the addition of the PRS to the IBIS risk score will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities
Time frame: Up to 10 years
PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
How individualized risk assessment on PRS may alter perceived risk of breast cancer
Time frame: Up to 10 years
PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Will use the R package Individualized Coherent Absolute Risk Estimators (iCare) a tool that allows researchers to quickly build models for absolute risk and apply them to estimate individuals' risk based on a set of user defined input. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
How individualized information on PRS may alter perceived risk of breast cancer
Time frame: Up to 10 years
The information used to calculate risk based on either the BCRAT or IBIS models accounts for known risk factors other than the PRS, creating a baseline hazard rate for each woman. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).
Long-term cumulative risk of cancer for the at-risk lesion
Time frame: Up to 10 years
Kaplan-Meier method will be used to estimate the long-term cumulative risk of cancer for the at-risk lesion.
Results and safety
The study was stopped early (reason given: Lack of funding). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 May 2026.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
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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.
Sabrina Sahni, M.D. principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Breast Atypical Ductal Hyperplasia and Breast Atypical Lobular Hyperplasia, run by Mayo Clinic at 1 site 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 7 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: stopped early, as of the sponsor's last update on 1 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The study was stopped early (reason given: Lack of funding). Results are not available in the source record.
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?
Whether the addition of an individual polygenic risk score (PRS) to the Breast Cancer Risk Assessment Tool (BCRAT) will improve intentions to adhere to recommended breast cancer screening strategies (time frame: Up to 10 years). The study lists 7 primary outcomes in all. 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 1 May 2026.