Endoplasmic stress-inducing variants in carboxyl ester lipase and pancreatic cancer risk.

ABSTRACT:

Background

Endoplasmic reticulum (ER) stress-inducing variants in several pancreatic secretory enzymes have been associated with pancreatic disease. Multiple variants in CEL, encoding carboxyl ester lipase, are known to cause maturity-onset diabetes of the young (MODY8) but have not been implicated in pancreatic cancer risk.

Methods

The prevalence of ER stress-inducing variants in the CEL gene was compared among pancreatic cancer cases vs. controls. Variants were identified by next-generation sequencing and confirmed by Sanger sequencing. Variants of uncertain significance (VUS) were assessed for their effect on the secretion of CEL protein and variants with reduced protein secretion were evaluated to determine if they induced endoplasmic reticulum stress.

Results

ER

SUBMITTER: Kawamoto M 

PROVIDER: S-EPMC9669157 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature