Hereditary Pancreatitis in the United States: Survival and Rates of Pancreatic Cancer.

ABSTRACT:

Objectives

Hereditary pancreatitis (HP), an autosomal dominant disease typically caused by mutations in PRSS1, has a broad range of clinical characteristics and high cumulative risk of pancreatic cancer. We describe survival and pancreatic cancer risk in the largest HP cohort in the US.

Methods

HP probands and family members prospectively recruited from 1995 to 2013 completed medical and family history questionnaires, and provided blood for DNA testing. Overall survival (until 12/31/2015) was determined from the Social Security Death Index (SSDI), National Death Index (NDI), and family members. Cause of death was obtained from the NDI.

Results

217 PRSS1 carriers (181 symptomatic) formed the study cohort. The most frequently detected mutations were p.R122H (83.9%) and

SUBMITTER: Shelton CA 

PROVIDER: S-EPMC6708435 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature