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

Ambry Genetics

Status: Completed

Conditions: Pancreatic Ductal Adenocarcinoma

Treatments: Genetic: Multi-gene Next Generation Sequencing Panel

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT02790944

NEX_14_028

Details and patient eligibility

About

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.

Full 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 .

Enrollment: 300 patients

Sex: All

Ages: 18 to 89 years old

Volunteers: No Healthy Volunteers

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.