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Genetic EPIdemiology of Kidney, renal pelvis and ureter cancer (GEPIKID)

Maria T Landi

2 Collaborator(s)

Funding source

National Cancer Institute (NIH)
This is study of Kidney, renal pelvis and ureter cancer and Kidney, renal pelvis and ureter diseases leading to Kidney, renal pelvis and ureter cancer from a referral center for urological tumors in Rome, Italy. The study would have three phases: Phase I, based on FFPE tissue collection and clinical data from >1,600 prevalent cases; Phase II, based on prevalent cases under follow-up (>1,100), with additional collection of epidemiological data and saliva samples; and Phase III, based on newly diagnosed cases, with collection of blood samples pre- and post-surgery (and possibly pre- and post-chemotherapy), and at follow-up visits; several fresh-frozen tissue samples from each tumor; FFPE tissues; questionnaire; and clinical data. We will begin with Phase I just retrieving archived tissue material and linked clinical data and basic demographic information under an OHSR exemption. If Phase I proves to be successful, we will extend it to the other two phases with IRB approval. The etiology and progression are still unclear. To date, three and two molecular signatures with cryptic origin in clear cell carcinoma and papillary types, respectively, have been identified. The FFPE samples from Phase I can provide an excellent resource to further understand Kidney, renal pelvis and ureter cancer architecture and study why certain tumors tend to recur often. Data from Phase II can clarify etiological associations and improve tumor classification. If Kidney, renal pelvis and ureter cancer specific molecular alterations can be identified in cell free Circulating Tumor DNA and are associated with survival and metastasis, we can test their use as a prognostic marker for tumor dormancy, recurrence, therapy resistance or progression in Phase III serial blood samples pre- and post-treatment, and at regular follow-up visits.

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