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Date of Award


Document Type

Thesis - Campus Access Only

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Pancreatic cancer (PC) has a poor prognosis, with a five-year survival rate of less than 9%. To investigate efficacy of PC screening, medical centers have implemented PC screening programs for individuals at increased risk due to family history and/or germline mutations in cancer predisposition genes. In this study, 109 individuals with mutations in PC predisposition genes, including BRCA2, BRCA1, ATM, PALB2, APC (I1307K), CDKN2A, STK11, and MSH2, were screened for PC via EUS and MRI. No PC or significant precursor lesions were detected. Pancreatic abnormalities (PAs), including cysts and parenchymal changes, were detected in 30% of these patients. More ATM mutation carriers (60%) were found to have PAs than BRCA1 (35%) and BRCA2 (28%) carriers. Family history of PC was associated with increased detection of PAs in ATM and BRCA1 carriers but not BRCA2 carriers, suggesting that BRCA2 carriers should be screened for PC regardless of family history. Personal history of cancer was associated with detection of PAs in BRCA1 and BRCA2 carriers, suggesting BRCA1/2 carriers with personal cancer history may have a higher risk of developing pancreatic abnormalities. Most individuals with PAs detected were under 65 years, supporting the initiation of PC screening at 50 years for mutation carriers.