Prospective Screening for Pancreatic Ductal Adenocarcinoma in High-Risk Individuals

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.

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.