Clinical trial NCT02790944: Utilizing a Multi-gene Testing Approach to Identify Hereditary Pancreatic Cancer
Official title: Utilizing a Multi-gene Testing Approach to Identify Hereditary Pancreatic Cancer in Consecutive Cases Unselected for Family History
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pancreatic Ductal Adenocarcinoma
Keywords: Germline
Pancreatic
Genetic Testing
Lead sponsor: Ambry Genetics
Sponsor class: INDUSTRY
Collaborators: name: Beth Israel Deaconess Medical Center
name: University of Pittsburgh Medical Center
name: HonorHealth Research Institute
First posted: 2016-06-06
Enrollment: 300
Sex: ALL
Minimum age (years): 18
Maximum age (years): 89
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population will be patients who are diagnosed within 12 weeks of enrollment with Pancreatic Ductal Adenocarcinoma.

Brief summary: The primary objective of the study will be to estimate the prevalence of germline mutations in patients who present consecutively within 12 weeks of a confirmed diagnosis of pancreatic ductal adenocarcinoma.

Detailed description: The proposed research is a multi-site prospective and observational plan to investigate the prevalence of germline mutations in patients diagnosed with pancreatic cancer. Thirty two genes will be analyzed, all of which have been associated with an increased risk for cancer. The genes are included on CancerNextTM a multi-gene next generation sequencing and array CGH test. The 32 genes include: APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, and TP53 .

Eligibility criteria: Inclusion Criteria:

* Male and female patients between the ages of 18 and 89 years of age.
* Diagnosed within the previous 12 weeks with histologically or cytologically confirmed PDAC Stage I to IV.
* Ability of participant to understand and the willingness to sign a written informed consent document.
* Participant must agree to sample collection and genetic testing using the 32 gene test, CancerNextTM and allow the test result to be part of their medical record.

Exclusion Criteria:

* Diagnosed with intraductal papillary mucinous neoplasms, mucinous cystic neoplasms, pancreatic neuroendocrine tumors or dysplasia without PDAC.
* Diagnosed with PDAC more than 12 weeks before presenting to the clinical site.
* Patients meeting the above enrollment criteria who have had CancerNext performed previously.

Primary outcomes:
measure: Germline Mutation Prevalence
timeFrame: 18 months
Secondary outcomes:
measure: Associate age at diagnosis with germline mutation status and family history
timeFrame: 18 months
measure: Access the psychological impact of testing for hereditary pancreatic cancer
timeFrame: 18 months
Other outcomes:
Locations:
city: Scottsdale
country: United States
facility: HonorHealth Research Institute
state: Arizona
city: Boston
country: United States
facility: Beth Israel Deaconess Medical Center
state: Massachusetts
city: Pittsburgh
country: United States
facility: University of Pittsburgh Medical Center
state: Pennsylvania
Study officials:
affiliation: University of Pittsburgh
name: Randall Brand, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Beth Israel Deaconess
name: Nadine Tung, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: HonorHealth Research Institute
name: Erkut Borazanci, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Cella D, Hughes C, Peterman A, Chang CH, Peshkin BN, Schwartz MD, Wenzel L, Lemke A, Marcus AC, Lerman C. A brief assessment of concerns associated with genetic testing for cancer: the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Health Psychol. 2002 Nov;21(6):564-72.