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Research Article | Volume 9 Issue :4 (, 2019) | Pages 1 - 10
Cystic Fibrosis Transmembrane Regulator and Risk of Gastrointestinal Cancer
Under a Creative Commons license
Open Access
DOI : 10.5083/ejcm
Published
Dec. 25, 2019
Abstract

The risk of Gastrointestinal (GI) cancers in patients with Cystic Fibrosis (CF) is high, and such a risk is not always fully taken into consideration, as Yamada et al. [1]. CF is characterized by altered management of intracellular Chloride (Cl-), owing to altered sequences in the Cystic Fibrosis Transmembrane Regulator gene (CFTR). The heterozygous frequency of at least one of the over 1900 mutated sequences of this gene occurs in one of 13 and one of 24 people, respectively, of Ashkenazy and of European descent, a non- infrequent occurrence. Altered Cl- transport might occur also in heterozygous individuals, albeit at a somewhat non-dangerous level. Additional increased modification of Cl- transport can be caused by the Vacuolating Toxin (VacA) of Helicobacter pylori as its p33 subunit with the N-terminal part of the p55 subunit also acts as a chloride channel [2]. VacA is known to circulate in vescicles called exosomes; these are very stable, can enter any cell type, and, therefore, have been proposed as a vehicle for therapies that need to reach distant organs. We wish to report our experience of testing chloride (Cl-) concentration in the sweat of patients with liver cirrhosis, aiming at excluding a risk factor for liver cancer development. Cl- levels above 59 mmol/L were found in 13 adult female patients who accepted to perform the test at the Regional Centre for cystic fibrosis of Torino; this level is a bona fide positive for Cystic Fibrosis Transmembrane Regulator (CFTR) dysregulation. Seven of these patients had already been diagnosed with cancer (or subsequently were diagnosed) at varying sites (two in breast, one each lung, liver, endometrium, stomach, acoustic nerve).

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