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.

MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with Microsatellite Instability / Pastrello, C; Santarosa, M; Fornasarig, M; Sigon, R; Perin, T; Giannini, Giuseppe; Boiocchi, M; Viel, A.. - In: DISEASE MARKERS. - ISSN 0278-0240. - 21:(2005), pp. 121-126. [10.1155/2005/370908]

MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with Microsatellite Instability

GIANNINI, Giuseppe;
2005

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.
2005
Colon cancer, MSI, mucin, VNTR, mismatch repair
01 Pubblicazione su rivista::01a Articolo in rivista
MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with Microsatellite Instability / Pastrello, C; Santarosa, M; Fornasarig, M; Sigon, R; Perin, T; Giannini, Giuseppe; Boiocchi, M; Viel, A.. - In: DISEASE MARKERS. - ISSN 0278-0240. - 21:(2005), pp. 121-126. [10.1155/2005/370908]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/45004
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