Pancreatic Ductal Adenocarcinoma
Conditions
Keywords
Germline, Pancreatic, Genetic Testing
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 .
Interventions
GENETICMulti-gene Next Generation Sequencing Panel
Participants will have genetic testing
Sponsors
Beth Israel Deaconess Medical Center
University of Pittsburgh Medical Center
HonorHealth Research Institute
Ambry Genetics
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 89 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United States
Outcome results
None listed