Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms

What this Trial Is About

Researchers are conducting a prospective observational multi-center pilot study to evaluate germline genetic testing in participants diagnosed with Pancreatic Neuroendocrine Neoplasms (PanNEN). The study aims to assess the frequency and types of germline mutations, including variants of uncertain significance, in these patients. Additional goals include understanding patient attitudes toward testing, reasons for declining testing, and the relationship between germline variants and somatic mutations in PanNEN. This research continues existing genetic testing efforts at the University of California, San Francisco (UCSF). Participants with a new or existing diagnosis of PanNEN will be invited to consent and offered germline testing using UCSF's Expanded Hereditary Cancer Panel, which tests for at least 88 genes. Those who have not previously undergone large panel germline testing will watch an informational video before deciding on testing. Participants who decline testing will be asked to complete a brief survey about their decision. Test results will be shared with participants and their healthcare providers according to standard practices at each site. Throughout the study, participants will complete surveys about their testing decisions. Researchers will monitor the rate of pathogenic germline mutations, types of mutations, variants of uncertain significance, rates of test completion, and declination. The study includes up to two years of follow-up to assess these outcomes. Participants must be willing to comply with study procedures, and results will be reported back to them and their providers. The study is led by the University of California, San Francisco and is expected to continue until the end of 2026.

Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms