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
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.
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.
Exclusion Criteria:
Patients undergo collection of blood or saliva sample for genetic testing.
Procedure: Biospecimen Collection · Other: Genetic Testing
Undergo collection of blood sample
Also known as: Biological Sample Collection, Biospecimen Collected, Specimen Collection
Undergo genetic testing
Also known as: Genetic Analysis, Genetic Examination, Genetic Test
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)
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)
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)
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)
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