Cancer, Cancer Gene Mutation, Hematopoietic and Lymphoid System Neoplasm, Malignant Solid Neoplasm, PAN Gene Mutation
Conditions
Keywords
Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Genetic Testing, Genetic Counseling, Genomics
Brief summary
This study is being done to identify markers and causes of cancer by analyzing patient's DNA (i.e., genetic material), RNA, plasma, tissues, or other samples that could be informative for patients with cancer. Cancer genetic testing is a series of tests that finds specific changes in cancer cells and normal cells in the body. Researchers may request to access these data as they explore how to better prevent, screen, or treat cancer. This study is also being done to create a biobank (library) of samples and information to learn more about treating cancer. Discovery of genetic variants in patients with cancer could result in opportunities for cancer prevention, earlier diagnosis or better therapy for cancer.
Interventions
GENETICPan-genomic Testing
Participants will be scheduled to review the study specifics, review consent and gather medical information. Once consented, samples will be collected. When the samples are received by Exact Sciences, DNA and RNA will be extracted, and sequencing will be performed. Following pan-genomic testing, participants will receive the full report with results from their care team and results will also be added to the patient's portal. If a germline finding is identified (positive pathogenic variant) the participant will also be referred for a genetic counselor visit. All results from the germline hereditary test will be reviewed by a certified genetic counselor in addition to a review of their pedigree. To help with review of any genetic research findings, the study team may request to obtain genomic data from previous genetic testing (clinical or research based).
Sponsors
Mayo Clinic
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
GROUP A: Germline and Somatic Testing * Has Mayo Clinic medical record number * Confirmed cancer diagnosis * Germline and/or somatic tumor/blood testing has been ordered by the clinical provider (or clinical delegate) * Participant aware of cancer diagnosis * Able to provide informed consent * ≥ 18 years old * Ability to provide blood, saliva, bone marrow aspirate or hair follicle sample * Ability to provide archived tissue, if somatic testing has not already been completed * Note: if tissue unavailable participant may still enroll onto the study for the germline collection, or vice versa, if germline has already been completed may still enroll for somatic tissue/blood testing. GROUP B: Germline testing only: * Has Mayo Clinic medical record number * Confirmed cancer diagnosis * Germline testing has been ordered by the clinical provider (or clinical delegate) * Participant aware of cancer diagnosis * Able to provide informed consent * ≥ 18 years old * Ability to provide blood, saliva, or hair follicle sample GROUP C: Somatic tumor testing only: * Has Mayo Clinic medical record number, * Confirmed cancer diagnosis, * Somatic tumor/blood testing has been ordered by the clinical provider (or clinical delegate) * Participant aware of cancer diagnosis, * Able to provide informed consent, * ≥ 18 years old * Ability to provide archived tissue or blood for somatic tumor genomic profiling, if not already completed. Group D: Clinical standard of care germline testing via genetic counselor: * Has Mayo Clinic medical record number, * Standard of care clinical visit with genetic counselor * Confirmed cancer diagnosis, * Germline testing has been ordered by the clinical provider (or clinical delegate) * Participant aware of cancer diagnosis, * Able to provide informed consent, * ≥ 18 years old * Ability to provide blood, saliva, or hair follicle sample Group E: Previous Enrollment in IRB #24-005734, 24-000609, 25-000815, 23-001689, or 24-004810: * Enrolled in any of the following studies: IRB #24-005734, 24-000609, 25-000815, 23-001689, or 24-004810 * Completed Riskguard, OncoExtra, Caris Assure, or Caris MI Profile or any combination of these tests. * Has Mayo Clinic medical record number, * Confirmed cancer diagnosis, * Participant aware of cancer diagnosis * Able to provide informed consent, * ≥ 18 years old
Exclusion criteria
Note: Women who are pregnant or planning to become pregnant can take part in this study. GROUP A: Germline and Somatic testing * Individuals who have situations that would limit compliance with the study requirements * Institutionalized (i.e. Federal Medical Prison) GROUP B: Germline testing only * Individuals who have situations that would limit compliance with the study requirements * Institutionalized (i.e. Federal Medical Prison) * Prior germline genetic testing with a 100+ multi-gene panel within the last 1 year of enrollment Group C: Somatic tumor testing only: * Individuals who have situations that would limit compliance with the study requirements, * Institutionalized (i.e. Federal Medical Prison), Group D: Clinical standard of care germline testing via genetic counselor: * Individuals who have situations that would limit compliance with the study requirements, * Institutionalized (i.e. Federal Medical Prison) Group E: Previous Enrollment in IRB #24-005734, 24-000609, 25-000815, 23-001689, or 24-004810: * Individuals who have situations that would limit compliance with the study requirements, * Institutionalized (i.e. Federal Medical Prison)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genomic sequencing of tumor tissue and blood | Baseline; 50 years | Genomic sequencing of tumor tissue and blood will be performed to determine genomic alterations in germline and somatic cancer-related genes (SNVs, indels, CNVs from DNA and fusions from RNA) to allow the ordering hematologist/oncologist/provider to determine optimal therapy and clinical trial prospective. Researchers across the field of genomic sequencing report findings about new variations in scientific publications and collect it in databases every day. Consequently, any patient's variant of uncertain significance (VUS) result could be reclassified by emerging findings, turning previously unresolved tests into diagnostic answers. Our Translational Omics Program has a system to re-analyze a patient's exome/genome data against these new genetic findings-reviewing data and comparing it with emerging clinical genetic data to facilitate diagnoses. |
Countries
United States
Contacts
CONTACTClinical Trials Referral Office
CONTACTKatie M. Gano, M.S.
PRINCIPAL_INVESTIGATORJewel J. Samadder, M.D.
Mayo Clinic
Outcome results
None listed