Cancer Genetic Testing in 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.

• Biospecimen Collection (Procedure), also known as Biological Sample Collection, Biospecimen Collected, Specimen Collection: Undergo collection of blood sample
• Genetic Testing (Other), also known as Genetic Analysis, Genetic Examination, Genetic Test: Undergo genetic testing

Primary outcomes

• Prevalence of pathogenic germline mutations in enrolled patients within each cancer site [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 [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 [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 [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.

Sex: All, ages: 18 Years to any

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:

* 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

• Jewel Samadder, M.D., Principal investigator, Mayo Clinic