Prospective Screening for Pancreatic Ductal Adenocarcinoma in High-Risk Individuals

Summary

The purpose of this research is to see if adding blood-based tests and symptom review to standard-of-care pancreatic cancer screening procedures can identify cancer early among individuals with increased risk.

Eligibility

Inclusion Criteria:

Participants must meet any of the following:

* Individuals with pathogenic/likely pathogenic germline variants in STK11, and age ≥30 years.
* Individuals with pathogenic/likely pathogenic germline variants in CDKN2A, and age ≥40 years (or 10 years younger than the earliest exocrine pancreatic cancer diagnosis in the family, whichever is earlier).
* Individuals with pathogenic/likely pathogenic germline variants in one of the other pancreatic cancer susceptibility genes (ATM, BRCA1, BRCA2, MLH1, MSH2, MSH6, EPCAM, PALB2, TP53), and age ≥50 years (or 10 years younger than the earliest exocrine pancreatic cancer diagnosis in the family, whichever is earlier) AND

  • Exocrine pancreatic cancer in ≥1 first- or second-degree relative from the same side of (or presumed to be from the same side of) the family as the identified pathogenic/likely pathogenic germline variant.
* Individuals with pathogenic/likely pathogenic variants in PRSS1 AND a clinical phenotype consistent with hereditary pancreatitis, and age ≥40 years (or 20 years after onset of pancreatitis, whichever is earlier).
* Individuals with familial pancreatic cancer including:

  * Family history of exocrine pancreatic cancer in ≥2 first-degree relatives from the same side of the family, even in the absence of a known pathogenic/likely pathogenic germline variant, OR
  * Family history of exocrine pancreatic cancer in 1 affected first-degree relative and 1 second-degree relative, even in the absence of a known pathogenic/likely pathogenic germline variant, OR
  * Family history of exocrine pancreatic cancer in ≥3 first- and/or second-degree relatives from the same side of the family, even in the absence of a known pathogenic/likely pathogenic germline variant.
* Individuals who are undergoing clinically recommended pancreatic cancer surveillance.

Exclusion Criteria:

* Individuals with active or prior pancreatic ductal adenocarcinoma diagnosis.
* Individuals with any active metastatic cancer.
* Individuals who are unable to give informed consent.
* Individuals who are under the age of 18 (infants, children, teenagers).
* Individuals unable to tolerate Magnetic Resonance Imaging/Magnetic Resonance Cholangiopancreatography and Endoscopic Ultrasound.
* Pregnant women are unlikely to be undergoing screening procedures and will not be considered eligible but can consent to the study at a later date.

Conditions6

Locations2 sites

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