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)
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.
Study Type
OBSERVATIONAL
Enrollment
300
UCSF's Internal Clinical Laboratory Improvement Amendments of 1988 (CLIA)-certified Expanded Hereditary Cancer Panel will be employed which measures a minimum 88 genes
University of California, Los Angeles
Los Angeles, California, United States
RECRUITINGUniveristy of California, San Diego
San Diego, California, United States
RECRUITINGUniversity of California, San Francisco
San Francisco, California, United States
RECRUITINGRate of overall pathogenic germline mutations
The overall percentage of participants with pathogenic, or likely pathogenic germline mutations will be reported with 95% confidence intervals
Time frame: Up to 2 years
Rates of different types of pathogenic mutations
The percentage of participants with each identified type of pathogenic, or likely pathogenic, will be reported with 95% confidence intervals
Time frame: Up to 2 years
Rates of different types of variants of uncertain significance (VUS)
The percentage of participants with identified variants of uncertain significance will be reported with 95% confidence intervals.
Time frame: Up to 2 years
Rate of declination for participants offered testing.
Participants who decline genetic testing but agree to participate in other study procedures will complete a Declination Survey which consists of one questions asking the reason for the decision to decline germline testing.
Time frame: Up to 2 years
Rate of completion of testing
The rate of study completion defined as the percentage of participants who agree to testing, and complete all study procedures through return of results and meeting with genetic counselor (as appropriate) will be reported.
Time frame: Up to 2 years
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