Breast CarcinomaNCT06060561
Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy
An observational study of Breast Carcinoma, run by Mayo Clinic at 1 site in United States.
Trial summary
This study evaluates genetic testing to improve risk assessment and advance efforts to develop precision management for breast cancer by studying saliva samples for genotyping and evaluate associations with pathologic diagnoses and detailed pathologic and radiologic features. Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Breast Carcinoma
- What is being tested?
- Non-Interventional Study
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 30 May 2023to 30 Jun 2028
- 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 18 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Study population: Women referred for a radiologically guided breast biopsy.
Who may be able to join
- * Women over the age of 18 years
- Able to provide informed consent
- Referred for a radiologically guided breast biopsy
Who cannot join
- * Men
- Women under the age of 18 years
- Unable to provide informed consent
Trial locations and contacts
1 site in 1 country.
United States1 site
Mayo Clinic in Florida
Jacksonville, Florida, 32224-9980
About this study
This study evaluates genetic testing to improve risk assessment and advance efforts to develop precision management for breast cancer by studying saliva samples for genotyping and evaluate associations with pathologic diagnoses and detailed pathologic and radiologic features.
Read the detailed description
PRIMARY OBJECTIVES:
- To collect saliva from 500 consenting women undergoing a clinically indicated breast biopsy, perform genotyping, and then assess the associations of polygenic risk score (PRS) (and related single nucleotide polymorphisms [SNPs]) to final diagnosis of ductal carcinoma in situ (DCIS), invasive breast cancer or benign breast disease (BBD); BBD severity; specific BBD lesions; and features of background benign lobules from which these lesions arise.
II. To relate PRS (and related SNPs) to radiologic features, including breast density and sentinel lesions, such as masses, densities, calcifications, and asymmetries.
III. To relate PRS (and related SNPs) to molecular markers in pathologic lesions and background tissues, including associations with breast cancer (BC) molecular subtypes (e.g., luminal, triple-negative (basal) and human epidermal growth factor receptor 2 [HER2] overexpressing) and biomarkers in BBD and lobules.
OUTLINE: This is an observational study.
Patients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed.
- Conditions
- Breast Carcinoma
- Being tested
- Non-Interventional Study
- Medical subject headings
- Breast Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Non-Interventional StudyOther
Non-interventional study
| Study group | Role | What they receive |
|---|---|---|
| Observational | Patients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed. Receives: Other: Non-Interventional Study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of subjects consented per month
Will be assessed by the percentage of eligible patients consented.
Measured: Baseline; Up to study completion (approximately 5 years)
Deoxyribonucleic acid (DNA) quantity
Will analyze DNA from saliva sample to assess quantity for a validated polygenic risk score (PRS) for breast cancer.
Measured: Up to study completion (approximately 5 years)
Deoxyribonucleic acid (DNA) quality
Will analyze DNA from saliva sample to assess quality for a validated PRS for breast cancer.
Measured: Up to study completion (approximately 5 years)
Ability to perform genotyping using collected sample
Will perform genotyping on collected saliva sample using the Infinium Global Diversity Array test to generate a validated polygenic risk score (PRS) for breast cancer. Test results will be reviewed to assess whether the saliva sample contains enough (quantity) viable (quality) deoxyribonucleic acid (DNA) to provide accurate genotype results.
Measured: Up to study completion (approximately 5 years)
Success in estimation of polygenic risk score (PRS)
Medical records will be reviewed and compared with study findings to determine success of PRS estimation.
Measured: Up to study completion (approximately 5 years)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Sep 2023
- Study start30 May 2023
- Primary completion30 Jun 2028 (estimated)
- Study completion30 Jun 2028 (estimated)
Why it stopped: on hold for analysis
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast CarcinomaStudies 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Mark E. Sherman, M.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06060561
- Sponsor's protocol ID
- 22-011193
- Other IDs
- NCI-2023-06044, 22-011193
- Status last verified
- Jul 2026
- First submitted
- 22 Sep 2023
- Last updated
- 16 Jul 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 16 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy
- ClinicalTrials.gov ID
- NCT06060561
- Acronym / sponsor ID
- 22-011193
- Conditions
- Breast Carcinoma
- Study type
- Observational
- Recruitment status
- SuspendedReason stopped: on hold for analysis
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 30 May 2023 (actual)
- Primary completion
- 30 Jun 2028 (estimated)
- Study completion
- 30 Jun 2028 (estimated)
- First posted
- 29 Sep 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 genetic testing to improve risk assessment and advance efforts to develop precision management for breast cancer by studying saliva samples for genotyping and evaluate associations with pathologic diagnoses and detailed pathologic and radiologic features.
Detailed description
PRIMARY OBJECTIVES:
- To collect saliva from 500 consenting women undergoing a clinically indicated breast biopsy, perform genotyping, and then assess the associations of polygenic risk score (PRS) (and related single nucleotide polymorphisms [SNPs]) to final diagnosis of ductal carcinoma in situ (DCIS), invasive breast cancer or benign breast disease (BBD); BBD severity; specific BBD lesions; and features of background benign lobules from which these lesions arise.
II. To relate PRS (and related SNPs) to radiologic features, including breast density and sentinel lesions, such as masses, densities, calcifications, and asymmetries.
III. To relate PRS (and related SNPs) to molecular markers in pathologic lesions and background tissues, including associations with breast cancer (BC) molecular subtypes (e.g., luminal, triple-negative (basal) and human epidermal growth factor receptor 2 [HER2] overexpressing) and biomarkers in BBD and lobules.
OUTLINE: This is an observational study.
Patients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Observational | – | Other: Non-Interventional StudyPatients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed. |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Women referred for a radiologically guided breast biopsy.
Key inclusion criteria (3 listed)
- * Women over the age of 18 years
Key exclusion criteria (3 listed)
- * Men
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 |
|---|---|---|
| Non-Interventional StudyNon-interventional study | Other | Observational |
Primary outcome
Number of subjects consented per month
Time frame: Baseline; Up to study completion (approximately 5 years)
Will be assessed by the percentage of eligible patients consented.
Deoxyribonucleic acid (DNA) quantity
Time frame: Up to study completion (approximately 5 years)
Will analyze DNA from saliva sample to assess quantity for a validated polygenic risk score (PRS) for breast cancer.
Deoxyribonucleic acid (DNA) quality
Time frame: Up to study completion (approximately 5 years)
Will analyze DNA from saliva sample to assess quality for a validated PRS for breast cancer.
Ability to perform genotyping using collected sample
Time frame: Up to study completion (approximately 5 years)
Will perform genotyping on collected saliva sample using the Infinium Global Diversity Array test to generate a validated polygenic risk score (PRS) for breast cancer. Test results will be reviewed to assess whether the saliva sample contains enough (quantity) viable (quality) deoxyribonucleic acid (DNA) to provide accurate genotype results.
Success in estimation of polygenic risk score (PRS)
Time frame: Up to study completion (approximately 5 years)
Medical records will be reviewed and compared with study findings to determine success of PRS estimation.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 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.
Mark E. Sherman, 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 Carcinoma, 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 3 inclusion and 3 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: paused, as of the sponsor's last update on 16 Jul 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?
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?
Number of subjects consented per month (time frame: Baseline; Up to study completion (approximately 5 years)). The study lists 5 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 16 Jul 2026; AzTrials last refreshed its copy on 7 Nov 2026.