Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Hereditary Cancer Panel.
- Who it may be relevant to
- Registry conditions: Pancreatic Neuroendocrine Neoplasm. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- 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
Primary outcome measures
- Rate of overall pathogenic germline mutations [Time frame: Up to 2 years]
Secondary outcome measures (4)
- Rates of different types of pathogenic mutations [Time frame: Up to 2 years]
- Rates of different types of variants of uncertain significance (VUS) [Time frame: Up to 2 years]
- Rate of declination for participants offered testing. [Time frame: Up to 2 years]
- Rate of completion of testing [Time frame: Up to 2 years]
Eligibility criteria
Inclusion criteria
- Histologically confirmed PanNEN.
a. The diagnostic biopsy may have been taken from any site (primary or metastatic).
- New and existing PanNEN participants will be eligible (any grade, any stage, any age > 18 years).
- Participants willing and able to comply with the study procedures.
Exclusion criteria
- Inability to provide informed consent.
- For participants who have not had prior testing with a dedicated germline pane of at least 80 genes:
- 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).
- Active hematologic malignancy.
- History of allogenic bone marrow transplant or stem cell transplant.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Cohort
Study locations
United States · 3 centers
- University of California, Los Angeles — Los Angeles
- Univeristy of California, San Diego — San Diego
- University of California, San Francisco — San Francisco
Identifiers
NCT: NCT05746182 · 224513 · NCI-2023-01566