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

Chiara Pastrello, Manuela Santarosa, Mara Fornasarig, Roberto Sigon, Tiziana Perin, Giuseppe Giannini, Mauro Boiocchi, Alessandra Viel

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)121-126
Number of pages6
JournalDisease Markers
Volume21
Issue number3
Publication statusPublished - 2005

Keywords

  • Colon cancer
  • Mismatch repair
  • MSI
  • Mucin
  • VNTR

ASJC Scopus subject areas

  • Medicine(all)
  • Clinical Biochemistry

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