Breast CarcinomaNCT04475640
Cancer Genetic Testing in Ethnic Populations
A study testing Biospecimen Collection and Genetic Testing in people with Breast Carcinoma and Carcinoma of Unknown Primary, run by Mayo Clinic at 2 sites in United States.
Trial summary
This clinical trial examines the integration of cancer genetic testing in various ethnic populations. Studying individuals and families at risk of cancer may help identify cancer genes and other persons at risk. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Breast Carcinoma, Carcinoma of Unknown Primary, Central Nervous System Carcinoma
- What is being tested?
- Biospecimen Collection and Genetic Testing
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1,800 participants
- Where
- 2 sitesUnited States
- Study dates
- 13 Jan 2020to 15 Oct 2028
- Phase
- Interventional
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Patients at least 18 years of age
- Individuals diagnosed with any solid tumor cancer including, but not limited to, gastrointestinal, breast, gynecological, genitourinary, skin, central nervous system (CNS)/brain, head/neck, musculoskeletal or cancer of unknown primary; and presenting to Mayo Clinic (MC Arizona or MC Florida) for clinical management/treatment; and patients receive genetic testing as described above
- Self-identified as being from various ethnic populations including Hispanic/Latino, Native American/Alaskan, African American (including of African descent), Asian and other European populations
- Blood collection is feasible (health, access and/or tolerability) for requested blood sample(s)
- Individuals have agreed to participate and signed the study informed consent form
Who cannot join
- Patients who have had prior germline genetic testing involving a 40+ gene panel within the last 24 months at Mayo Clinic and available for review by the research coordinator at time of consent
- Past or current history of hematological cancer (including leukemias, multiple myeloma)
- All bone marrow transplants
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
Mayo Clinic in Florida
Jacksonville, Florida, 32224-9980
Clinical Trials Referral Office, 855-776-0015, mayocliniccancerstudies@mayo.edu
Jeremy C. Jones, M.D.
- Recruiting
Mayo Clinic in Arizona
Scottsdale, Arizona, 85259
Clinical Trials Referral Office, 855-776-0015, mayocliniccancerstudies@mayo.edu
Jewel Samadder, M.D.
About this study
Official title: GEMINI - Cancer Genetic Testing in Ethnic Populations
This clinical trial examines the integration of cancer genetic testing in various ethnic populations. Studying individuals and families at risk of cancer may help identify cancer genes and other persons at risk. The information from this study may provide an opportunity for cancer risk stratification and individualized screening in these ethnic populations.
Read the detailed description
PRIMARY OBJECTIVE:
- To determine the prevalence of genetic mutations in cancer patients from various ethnic populations seeking care at Mayo Clinic Arizona and Mayo Clinic Florida cancer clinics.
SECONDARY OBJECTIVES:
- Perform a chart review to assess the impact of genetic testing as part of standard of oncology care:
Ia. Determine prevalence of pathogenic germline mutation detected by multi-gene panel testing.
Ib. Determine differences in germline mutation detection in these patients as compared to traditional guideline (National Comprehensive Cancer Network [NCCN]) based approach for genetic evaluation.
OUTLINE:
Patients undergo collection of blood or saliva sample for genetic testing.
- Conditions
- Breast Carcinoma, Carcinoma of Unknown Primary, Central Nervous System Carcinoma, Digestive System Carcinoma, Genitourinary System Carcinoma, Head and Neck Carcinoma
- Being tested
- Biospecimen Collection, Genetic Testing
- Medical subject headings
- Breast Neoplasms, Neoplasms, Unknown Primary, Brain Neoplasms
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 sample
Genetic TestingOther
Also called Genetic Analysis, Genetic Examination, Genetic Test
Undergo genetic testing
| Study group | Role | What they receive |
|---|---|---|
| Screening (biospecimen collection) | Experimental | Patients undergo collection of blood or saliva sample for genetic testing. Receives: Procedure: Biospecimen Collection; Other: Genetic Testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of pathogenic germline mutations in enrolled patients within each cancer site
Will identify the prevalence of pathogenic germline mutations in enrolled patients within each cancer site, age (< 60 years old versus (vs.) >= 60 years old), and stage (early vs. advanced) via descriptive statistics.
Measured: Study completion (2 years)
Prevalence of positive pathogenic germline mutations
Will determine whether the prevalence of positive pathogenic germline mutations differs between cancer sites, age of diagnosis, and stage of diagnosis using logistic regression analysis across all cancer site groups and pairwise post-hoc analyses using Tukey's correction for multiple comparisons across pairs of cancer sites and chi-square tests of differences between age and stage groups.
Measured: Study completion (2 years)
Rate of mutation detection via genetic testing to clinical practice guidelines of traditional family history criteria
Will compare the rate of mutation detection via genetic testing to clinical practice guidelines of traditional family history criteria within cancer site, age, and stage using logistic regression and pairwise post-hoc analyses as needed.
Measured: Study completion (2 years)
Impact of germline genetic testing on both therapeutic management and targeted cancer prevention
Will assess the impact of germline genetic testing on both therapeutic management and targeted cancer prevention in family members using logistic regression and pairwise post-hoc analyses as needed.
Measured: Study completion (2 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 start13 Jan 2020
- Primary completion15 Oct 2028 (estimated)
- Study completion15 Oct 2028 (estimated)
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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1,800 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jewel Samadder, M.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04475640
- Sponsor's protocol ID
- GEMINI
- Other IDs
- 19-006717
- Status last verified
- Apr 2026
- First submitted
- 25 Jun 2020
- Last updated
- 2 Apr 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 2 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- GEMINI - Cancer Genetic Testing in Ethnic Populations
- ClinicalTrials.gov ID
- NCT04475640
- Acronym / sponsor ID
- GEMINI
- Conditions
- Breast Carcinoma, Carcinoma of Unknown Primary, Central Nervous System Carcinoma, Digestive System Carcinoma, Genitourinary System Carcinoma, Head and Neck Carcinoma
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 1,800 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 13 Jan 2020 (actual)
- Primary completion
- 15 Oct 2028 (estimated)
- Study completion
- 15 Oct 2028 (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.
This clinical trial examines the integration of cancer genetic testing in various ethnic populations. Studying individuals and families at risk of cancer may help identify cancer genes and other persons at risk. The information from this study may provide an opportunity for cancer risk stratification and individualized screening in these ethnic populations.
Detailed description
PRIMARY OBJECTIVE:
- To determine the prevalence of genetic mutations in cancer patients from various ethnic populations seeking care at Mayo Clinic Arizona and Mayo Clinic Florida cancer clinics.
SECONDARY OBJECTIVES:
- Perform a chart review to assess the impact of genetic testing as part of standard of oncology care:
Ia. Determine prevalence of pathogenic germline mutation detected by multi-gene panel testing.
Ib. Determine differences in germline mutation detection in these patients as compared to traditional guideline (National Comprehensive Cancer Network [NCCN]) based approach for genetic evaluation.
OUTLINE:
Patients undergo collection of blood or saliva sample for genetic testing.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Screening (biospecimen collection) | Experimental | Procedure: Biospecimen Collection, Other: Genetic TestingPatients undergo collection of blood or saliva sample for genetic testing. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- Patients at least 18 years of age
- Individuals diagnosed with any solid tumor cancer including, but not limited to, gastrointestinal, breast, gynecological, genitourinary, skin, central nervous system (CNS)/brain, head/neck, musculoskeletal or cancer of unknown primary; and presenting to Mayo Clinic (MC Arizona or MC Florida) for clinical management/treatment; and patients receive genetic testing as described above
- Self-identified as being from various ethnic populations including Hispanic/Latino, Native American/Alaskan, African American (including of African descent), Asian and other European populations
- Blood collection is feasible (health, access and/or tolerability) for requested blood sample(s)
- Individuals have agreed to participate and signed the study informed consent form
Key exclusion criteria (3 listed)
- Patients who have had prior germline genetic testing involving a 40+ gene panel within the last 24 months at Mayo Clinic and available for review by the research coordinator at time of consent
- Past or current history of hematological cancer (including leukemias, multiple myeloma)
- All bone marrow transplants
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 sample | Procedure or surgery | Screening (biospecimen collection) |
| Genetic TestingAlso: Genetic Analysis, Genetic Examination, Genetic TestUndergo genetic testing | Other | Screening (biospecimen collection) |
Primary outcome
Prevalence of pathogenic germline mutations in enrolled patients within each cancer site
Time frame: Study completion (2 years)
Will identify the prevalence of pathogenic germline mutations in enrolled patients within each cancer site, age (< 60 years old versus (vs.) >= 60 years old), and stage (early vs. advanced) via descriptive statistics.
Prevalence of positive pathogenic germline mutations
Time frame: Study completion (2 years)
Will determine whether the prevalence of positive pathogenic germline mutations differs between cancer sites, age of diagnosis, and stage of diagnosis using logistic regression analysis across all cancer site groups and pairwise post-hoc analyses using Tukey's correction for multiple comparisons across pairs of cancer sites and chi-square tests of differences between age and stage groups.
Rate of mutation detection via genetic testing to clinical practice guidelines of traditional family history criteria
Time frame: Study completion (2 years)
Will compare the rate of mutation detection via genetic testing to clinical practice guidelines of traditional family history criteria within cancer site, age, and stage using logistic regression and pairwise post-hoc analyses as needed.
Impact of germline genetic testing on both therapeutic management and targeted cancer prevention
Time frame: Study completion (2 years)
Will assess the impact of germline genetic testing on both therapeutic management and targeted cancer prevention in family members using logistic regression and pairwise post-hoc analyses as needed.
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 2 Apr 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.
Jewel Samadder, M.D. principal investigator
Mayo Clinic
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Biospecimen Collection and Genetic Testing in people with Breast Carcinoma and Carcinoma of Unknown Primary, run by Mayo Clinic at 2 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 5 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: looking for participants now, as of the sponsor's last update on 2 Apr 2026. 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. 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?
Contact Clinical Trials Referral Office (855-776-0015, mayocliniccancerstudies@mayo.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of pathogenic germline mutations in enrolled patients within each cancer site (time frame: Study completion (2 years)). The study lists 4 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 2 Apr 2026.