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The NHS' Genomic Medicine Service offers whole genome sequencing as part of the drive to improve cancer outcomes. It is recognised that actionable mutations (current and emerging), will ultimately improve outcomes across multiple disease sites by identifying which treatments may benefit individual patients the most, and by providing earlier and more accurate diagnoses. However, testing in the cancer setting is currently limited to haematological malignancies and sarcoma. The majority of patients with solid tumours do not yet have access to this platform and the benefits that it may bring. Therefore, expanding genomic testing capacity within a research setting has potential to benefit those patients that would otherwise not be able to access testing. In this study we will be using tissue derived from patients undergoing surgery for cancer to validate an in-house genomic testing platform against Roche's Foundation Medicine genomic profile service, which is an FDA- approved commercial platform.
In addition, two blood samples will be taken in order that we can test whether markers present in the tissue may also be seen in blood. We hope that this will help us monitor minimal residual disease in patients, allowing earlier detection of relapse/recurrence than radiology currently allows.
Patients may also agree to donate optional excess fresh tissue from their surgery. This will be integrated with other laboratory platforms which may offer information on prospective drug response based on genotypic profiles (e.g., patient-derived explants).
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| Measure | Description | Time Frame |
|---|---|---|
| Cross-validate the in-house genetic testing platform against the FDA approved Foundation Medicine | To cross-validate the Thermofisher Oncomine tissue and cfTNA assays (in house) against the FDA approved Foundation Medicine platform by comparison of the spectrum and variant frequency of cancer-specific alterations detected in matched tissue and blood. | 12-24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Assess Utility in detecting minimal residual disease | To compare ctDNA mutations and variant frequency in blood samples pre- and post-surgery to assess utility in detection of minimal residual disease | 12-24 months |
| Data integration |
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Inclusion Criteria:
Exclusion Criteria:
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Trial participants will consist of patients with solid tumours that have a high likelihood of rapid post-surgical relapse. Such tumours types typically include gastroesophageal, gastrointestinal cancers and colorectal liver metastases, but other malignancies will also be considered.
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| Name | Affiliation | Role |
|---|---|---|
| Anne Thomas | University of Leicester/University Hospitals Leicester | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospitals of Leicester | Leicester | United Kingdom |
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| ID | Term |
|---|---|
| D009369 | Neoplasms |
| D018365 | Neoplasm, Residual |
| ID | Term |
|---|---|
| D009385 | Neoplastic Processes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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Ability to integrate data from clinical risk factors, and up-front genotyping.
| 12-24 months |
| Feasibility of testing platform in clinical setting | Feasibility of returning laboratory analysis in a clinically meaningful timeframe. | 12-24 months |