Summary

Eligibility
for people ages 18 years and up (full criteria)
Location
at San Diego, California and other locations
Dates
study started
completion around
Principal Investigator
by Paul Fanta, MD
Headshot of Paul Fanta
Paul Fanta

Description

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)

Details

PRIMARY OBJECTIVE:

  1. To assess the frequency of germline mutations in patients with PanNEN.

SECONDARY OBJECTIVES:

  1. 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:

  1. 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.

Keywords

Pancreatic Neuroendocrine Neoplasm, Genetic Assay, Biomarkers, Neoplasms, Neuroendocrine Tumors, Islet Cell Adenoma, Disease Susceptibility, Genetic Predisposition to Disease, Hereditary Cancer Panel

Eligibility

You can join if…

Open to people ages 18 years and up

  1. Histologically confirmed PanNEN.
    1. 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.

You CAN'T join if...

  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.

Locations

  • Univeristy of California, San Diego not yet accepting patients
    San Diego California 92093 United States
  • University of California, Los Angeles accepting new patients
    Los Angeles California 90095 United States
  • University of California, San Francisco accepting new patients
    San Francisco California 94143 United States

Lead Scientist at UCSD

  • Paul Fanta, MD
    The diagnosis and management of gastrointestinal cancers has dramatically changed in the past several years.

Details

Status
accepting new patients at some sites,
but this study is not currently recruiting here
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
ID
NCT05746182
Study Type
Observational
Participants
Expecting 300 study participants
Last Updated