Validation of DNA Methylation Markers for Universal and Site-specific Guided Cancer Detection, VANGUARD Study

PRIMARY OBJECTIVES:

I. Validate candidate universal and site-specific MDMs in DNA extracted from formalin-fixed paraffin embedded primary tumor and control specimens.

II. Test MDM-based models for detection of the top 16 most lethal human cancers using a non-invasive biological medium, specifically blood.

III. Assess feasibility for detection of cancers using urine samples to assay MDMs, RNA or protein in cell free or extra-cellular vesicles; patients may be the same or unique individuals from Aim 1 and 2.

OUTLINE: This is an observational study.

Patients undergo blood, urine, and/or residual tissue sample collection and have their medical records reviewed on study.

Inclusion criteria

• Aim 1 Tissue

• Cases:

• Patient has a biopsy confirmed diagnosis of target histology
• Tissue samples from synchronous or metachronous primary cancers may be used as long as they are clearly of a different target organ.
• Tumors from patients with an underlying genetic disorder pre-disposing to cancer may be included as long as they are stratified from those without
• Controls:

• Patient does not have the diagnosis of target histology
• Aim 2 Blood

• Cases:

• Patient has a biopsy confirmed diagnosis of target histology or radiographic criteria that are unequivocal for diagnosis (example, meets radiographic criteria for hepatocellular carcinoma)
• Controls:

• Patient does not have a diagnosis of the target histology
• Aim 3 Urine

• Cases:

• Patient has a biopsy confirmed diagnosis of target histology or radiographic criteria that are unequivocal for diagnosis (example, meets radiographic criteria for hepatocellular carcinoma)
• Controls:

• Patient does not have a diagnosis of the target histology

Exclusion criteria

• Aim 1 Tissue

• Cases and Controls:

• Patient has had any transplants prior to tissue collection
• Patient has received chemotherapy class drugs within 5 years prior to tissue collection
• Cases:

• Patient has had radiation to the current target lesion prior to tissue collection
• Patient has multi-centric/multi-focal breast cancer with differing genetic profiles (ER/HER2/PR status differ; if multiple masses are present and not all are tested then exclude patient)
• Patient has bilateral breast cancer/Ductal carcinoma in situ (DCIS)
• Aim 2 Blood

• Cases and Controls:

• Patient has known cancer outside of the target cancer 5 years prior to blood collection (not including basal cell or squamous cell skin cancers)
• Patient has received chemotherapy class drugs in the 5 years prior to blood collection
• Patient has had any prior radiation therapy to the target lesion prior to blood collection
• Patient has had a biopsy to the target organ and/or lesion within 3 days before blood collection
• Cases:

• Patient has had an intervention to completely remove current target pathology
• The current target pathology is a recurrence
• Patient has multi-centric/multi-focal breast cancer with differing genetic profiles (ER/HER2/PR status differ; if multiple masses are present and not all are tested then exclude patient)
• Patient has bilateral breast cancer/DCIS
• Aim 3 Urine

• Patient has known cancer outside of the target cancer 5 years prior to urine collection (not including basal cell or squamous cell skin cancers)
• Patient has received chemotherapy class drugs in the 5 years prior to urine collection
• Patient has had any prior radiation therapy to the target lesion prior to urine collection
• Patient has had a biopsy to the target organ and/or lesion within 3 days before urine collection
• The current target pathology is a recurrence
• Patient has chronic indwelling urinary catheter
• Patient has had a urinary tract infection within the 14 days prior to sample collection
• If patient does not have a primary bladder, ureter or urethral cancer, patient has a history of bladder ureter, or urethral cancer
• Cases:

• Patient has had an intervention to completely remove current target pathology
• The current target pathology is a recurrence
• Patient has multi-centric/multi-focal breast cancer with differing genetic profiles [estrogen receptor (ER)/human epidermal growth factor receptor 2 (HER2)/progesterone receptor (PR)] status differ; if multiple masses are present and not all are tested then exclude patient)
• Patient has bilateral breast cancer/DCIS