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One Year Experience of Characterization of Genetic Risk in a High-Risk Pancreatic Clinic
Kendra Flores1; Kate Dinh2; Erin Rouleau1; Wahid Wassef3; Jennifer LaFemina2
1University of Massachusetts; Division of Genetics; Department of Pediatrics; Worcester, MA; 2University of Massachusetts; Division of Gastroenterology; Department of Medicine; Worcester, MA; 3University of Massachusetts; Division of Surgical Oncology; Department of Surgery; Worcester, MA

Background: Despite the established benefit of early detection in pancreatic cancer (PDAC) prognosis, high-risk pancreatic clinics are less common than their breast or colon counterparts. One of the difficulties of establishing a high-risk clinic is delineating which individuals are “high-risk.”

Methods: We retrospectively examined patients referred for genetic counseling for PDAC from January 2009-June 2014. Patients were referred for a personal and/or family history of PDAC or a potential diagnosis of hereditary pancreatitis (HP).

Results: 75 patients were referred for genetic counseling; 36 underwent testing. Twelve (33%) mutation carriers were identified, demonstrating a positivity rate higher than in high-risk clinics for other malignancies. The most common reason to decline testing was lack of insurance. 11% of patients with a family history of PDAC were found to carry a mutation. 20% of those a personal history of PDAC were found to carry a mutation. Ten of 43 patients with a personal history of chronic pancreatitis were found to carry ≥1 mutations. Of these, 8 were heterozygous for CFTR mutations, 1 was CFTR homozygous, and 1 was homozygous for SPINK1 mutations.

Conclusion: This study illustrates criteria for the highest yield of genetic evaluation for high-risk of PDAC. Insurance coverage for unaffected relatives is lacking. Identification of a causative mutation in an affected family member allows for cost-effective targeted testing in at-risk relatives. Individuals with apparently idiopathic pancreatitis, onset of pancreatitis < 30 years, and those with a family history of pancreatitis or PDAC are candidates for genetic evaluation.

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