NCT05746182

Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 300 (estimated)
• Sponsor: University of California, San Francisco · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: —

Summary

This is a prospective observational multi-center pilot study of germline testing for participants receiving care at University of California participating locations with a new or existing diagnosis of Pancreatic Neuroendocrine Neoplasms (PanNEN). This protocol is an extension of existing Genetic Testing Station efforts at University of California, San Francisco (UCSF)

Detailed description

PRIMARY OBJECTIVE: I. To assess the frequency of germline mutations in patients with PanNEN. SECONDARY OBJECTIVES: I. To assess the rates of different types of germline mutations in patients PanNEN. II. To assess the rates of different types of variants of uncertain significance in patients with PanNEN. III. To estimate the rate of completion of genetic testing in patients who are offered prospective germline testing. EXPLORATORY OBJECTIVES: I. To examine attitudes of patients who have completed germline testing. II. To explore reasons for declining germline testing. III. In patients with repeat germline testing, compare the frequency of germline alteration between tests. IV. Assess the relationship between germline pathogenic variants and somatic mutations in PanNEN. OUTLINE: Potential eligible participants will be identified via chart review and invited to consent to the study. Study participants who agree to prospective testing and have not had previous large panel germline testing will watch an informational video about germline testing and be offered testing with University of California, San Francisco's (UCSF) Expanded Hereditary Cancer Panel. Study participants who decline germline testing will be asked to answer a one-question Declination Survey. Results will be shared with participants and their providers per the standard of practice at each participating study site. All participants who decided to receive germline testing will be asked to complete a decision survey.

Conditions

• Pancreatic Neuroendocrine Neoplasm

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Hereditary Cancer Panel	UCSF's Internal Clinical Laboratory Improvement Amendments of 1988 (CLIA)-certified Expanded Hereditary Cancer Panel will be employed which measures a minimum 88 genes

Timeline

• Start date: 2023-04-07
• Primary completion: 2026-12-31
• Completion: 2026-12-31
• First posted: 2023-02-27
• Last updated: 2026-01-26

Locations

3 sites across 1 country: United States