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RecruitingNCT04475640Updated Apr 2, 2026

Cancer Genetic Testing in Ethnic Populations

An interventional study of Biospecimen Collection and Genetic Testing in Breast Carcinoma, Carcinoma of Unknown Primary and Central Nervous System Carcinoma, sponsored by Mayo Clinic. Recruiting at 2 sites in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-04-02.

Sponsored by Mayo Clinic · Not applicable, Interventional, and Screening

Phase
Not applicable
Study type
Interventional
Enrollment
1,800
Allocation
Not applicable
Ages
18 Years and older
Sex
All
01

Study 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. 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:

I. 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:

I. 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.

02

Conditions studied

  • Breast Carcinoma
  • Carcinoma of Unknown Primary
  • Central Nervous System Carcinoma
  • Digestive System Carcinoma
  • Genitourinary System Carcinoma
  • Head and Neck Carcinoma
  • Malignant Brain Neoplasm
  • Malignant Female Reproductive System Neoplasm
  • Malignant Musculoskeletal Neoplasm
  • Malignant Solid Neoplasm
  • Skin Carcinoma
03

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No

Inclusion criteria

  • 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

Exclusion criteria

Exclusion Criteria:

  • 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
04

Study design

Phase
Not applicable
Primary purpose
Screening
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
1,800 participants (estimated)

Study arms

  • Experimental
    Screening (biospecimen collection)

    Patients undergo collection of blood or saliva sample for genetic testing.

    Procedure: Biospecimen Collection · Other: Genetic Testing

Interventions

  • ProcedureBiospecimen Collection

    Undergo collection of blood sample

    Also known as: Biological Sample Collection, Biospecimen Collected, Specimen Collection

  • OtherGenetic Testing

    Undergo genetic testing

    Also known as: Genetic Analysis, Genetic Examination, Genetic Test

05

What researchers measure

Primary outcomes

  1. 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.

    Time frame: Study completion (2 years)

  2. 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.

    Time frame: Study completion (2 years)

  3. 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.

    Time frame: Study completion (2 years)

  4. 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.

    Time frame: Study completion (2 years)

06

Study locations

2 of 2 sites recruiting
  • Mayo Clinic in Arizona
    Scottsdale, Arizona 85259, United States
    Recruiting
  • Mayo Clinic in Florida
    Jacksonville, Florida 32224-9980, United States
    Recruiting
07

References and documents

08

Registry details

Key details

Study ID
NCT04475640
Lead sponsor
Mayo Clinic
Responsible party
Sponsor
First posted
Jul 17, 2020
Start date
Jan 13, 2020
Primary completion
Oct 15, 2028 (estimated)
Completion
Oct 15, 2028 (estimated)
Last update
Apr 2, 2026

Study contacts

Clinical Trials Referral Office
Contact
mayocliniccancerstudies@mayo.edu
855-776-0015
Jewel Samadder, M.D.
principal investigator · Mayo Clinic

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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