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

Utilizing a Multi-gene Testing Approach to Identify Hereditary Pancreatic Cancer in Consecutive Cases Unselected for Family History

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.

Study Overview

• Status: Completed
• Conditions: Pancreatic Ductal Adenocarcinoma
• Intervention / Treatment: Genetic: Multi-gene Next Generation Sequencing Panel

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 Type: Observational
• Enrollment (Actual): 300

Contacts and Locations

Study Locations

• United States
  • Arizona
    • Scottsdale, Arizona, United States, 85258
      • HonorHealth Research Institute
  • Massachusetts
    • Boston, Massachusetts, United States, 02215-5400
      • Beth Israel Deaconess Medical Center
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15232
      • University of Pittsburgh Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 89 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Germline Mutation Prevalence	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.	18 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Associate age at diagnosis with germline mutation status and family history		18 months
Access the psychological impact of testing for hereditary pancreatic cancer	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.	18 months

Collaborators and Investigators

• Sponsor: Ambry Genetics
• Collaborators: Beth Israel Deaconess Medical Center; HonorHealth Research Institute; University of Pittsburgh Medical Center
• Investigators: Principal Investigator: Randall Brand, MD, University of Pittsburgh; Principal Investigator: Nadine Tung, MD, Beth Israel Deaconess

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start (Actual): May 4, 2016
• Primary Completion (Actual): August 15, 2020
• Study Completion (Actual): August 15, 2020

Study Registration Dates

• First Submitted: May 25, 2016
• First Submitted That Met QC Criteria: June 1, 2016
• First Posted (Estimate): June 6, 2016

Study Record Updates

• Last Update Posted (Actual): August 25, 2020
• Last Update Submitted That Met QC Criteria: August 24, 2020
• Last Verified: January 1, 2020

More Information

Terms related to this study

• Keywords: Genetic Testing; Pancreatic; Germline
• Other Study ID Numbers: NEX_14_028

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided