MUC Gene Abnormalities in Sporadic and Hereditary Mucinous Colon Cancers with Microsatellite InstabilityReport as inadecuate




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Disease Markers - Volume 21 2005, Issue 3, Pages 121-126



Department of Preclinical Research and Epidemiology, Centro Riferimento Oncologico, IRCCS, Aviano PN, Italy

Department of Medical Oncology, Centro Riferimento Oncologico, IRCCS, Aviano PN, Italy

Department of Surgical Oncology, Centro Riferimento Oncologico, IRCCS, Aviano PN, Italy

Department of Diagnostics, Centro Riferimento Oncologico, IRCCS, Aviano PN, Italy

Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy

Received 21 October 2005; Accepted 21 October 2005

Copyright © 2005 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Aim of this study was verifying whether mucin producing colon cancers CRCs could develop through a molecular pathway involving microsatellite instability MSI and MUC gene alterations. Out of 49 CRCs expressing variable amounts of mucin, 22 44.9% were MSI-H and 5 10.2% were MSI-L. MUC genes were analyzed by Southern blotting and extra bands were evident in the Variable Number Tandem Repetition VNTR regions of MUC2 5 cases and MUC5AC 2 cases, but not MUC1 and MUC4 genes. Since the somatic VNTR abnormalities were detected in 6 MSI-H and in 1 MSI-L tumors, they seem to be peculiar of mismatch repair defective CRCs. Our finding suggests that alteration and-or loss of structurally normal MUC genes may be an important step in the neoplastic molecular pathway of a subset of CRCs and that mutations involving VNTR repetitive sequences may exist in MSI tumors as a direct and-or indirect consequence of an inefficient MMR system.





Author: Chiara Pastrello, Manuela Santarosa, Mara Fornasarig, Roberto Sigon, Tiziana Perin, Giuseppe Giannini, Mauro Boiocchi, and Alessa

Source: https://www.hindawi.com/



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