Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms (PanNEN)

University of California San Francisco (UCSF)

Status: Enrolling

Conditions: Pancreatic Neuroendocrine Neoplasm

Treatments: Diagnostic Test: Hereditary Cancer Panel

Study type: Observational

Funder types: Other

Identifiers

NCT05746182

224513

NCI-2023-01566 (Registry Identifier)

Details and patient eligibility

About

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)

Full 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.

Enrollment: 300 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Histologically confirmed PanNEN.

   a. The diagnostic biopsy may have been taken from any site (primary or metastatic).

2. New and existing PanNEN participants will be eligible (any grade, any stage, any age > 18 years).

3. Participants willing and able to comply with the study procedures.

Exclusion criteria

1. Inability to provide informed consent.

2. For participants who have not had prior testing with a dedicated germline pane of at least 80 genes:

   1. Inability to speak/read a language supported by the germline testing station (GTS). The supported languages currently include English, Korean, Japanese, Vietnamese, Russian, Tagalog, Farsi, Spanish, Cantonese, Mandarin, and Arabic).
   2. Active hematologic malignancy.
   3. History of allogenic bone marrow transplant or stem cell transplant.

Trial design

300 participants in 1 patient group

Participants with Pancreatic Neuroendocrine Neoplasms

Treatment:

Diagnostic Test: Hereditary Cancer Panel