Utilizing a Multi-gene Testing Approach to Identify Hereditary Pancreatic Cancer

Completed

• Conditions: Pancreatic Ductal Adenocarcinoma

• Registration Number: NCT02790944
• Lead Sponsor: Ambry Genetics

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 .

Study Timeline

• Study Start: 2016-05-04
• Study First Submitted: 2016-05-25
• Study First Submitted QC: 2016-06-01
• Study First Posted: 2016-06-06
• Status Verified: 2020-01
• Primary Completion: 2020-08-15
• Study Completion: 2020-08-15
• Last Update Submitted: 2020-08-24
• Last Update Posted: 2020-08-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 300

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Germline Mutation Prevalence	18 months	The primary objective of the study will be to estimate the prevalence of germline mutations in patients who present consecutively to the clinical site within 12 weeks of a histologically or cytologically confirmed diagnosis of pancreatic ductal adenocarcinoma.

Secondary Outcome Measures

Name	Time	Method
Associate age at diagnosis with germline mutation status and family history	18 months
Access the psychological impact of testing for hereditary pancreatic cancer	18 months	A previously validated questionnaire, the Multidimensional Impact of Cancer Risk Assessment (MICRA) will be used as a measure of the psychological impact of genetic testing.

Trial Locations

Locations (3)

HonorHealth Research Institute; 🇺🇸 Scottsdale, Arizona, United States

Beth Israel Deaconess Medical Center; 🇺🇸 Boston, Massachusetts, United States

University of Pittsburgh Medical Center; 🇺🇸 Pittsburgh, Pennsylvania, United States