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Research ArticleClinical Studies

Heterozygosity of SNP513 in Intron 9 of the Human Calretinin Gene (CALB2) is a Risk Factor for Colon Cancer

SILVIA VONLANTHEN, TADEUSZ J. KAWECKI, DANIEL C. BETTICHER, MARTINE PFEFFERLI and BEAT SCHWALLER
Anticancer Research November 2007, 27 (6C) 4279-4288;
SILVIA VONLANTHEN
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TADEUSZ J. KAWECKI
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DANIEL C. BETTICHER
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MARTINE PFEFFERLI
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BEAT SCHWALLER
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  • For correspondence: Beat.Schwaller@unifr.ch
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Abstract

Background: The Ca2+-binding protein calretinin (CR), while absent in normal colonocytes, is expressed in the majority of poorly differentiated colon carcinomas, and is hypothesized that mutations in the distal part (from exon 7 to 10) of the CR gene (CALB2) could be responsible for the aberrant CR expression. Materials and Methods: Using PCR amplification of genomic DNA and restriction fragment length polymorphism analysis, four single nucleotide polymorphisms (SNPs) were identified in CALB2 intron 9. Results: A significant positive association between the genotype at SNP513 and colon cancer was found: more C/T heterozygotes were found in patients with colon tumors (60%) compared to healthy controls (35%) or patients with lung tumors (38%). Our results indicate that C/T heterozygosity at position 513 is linked to CR expression in colon tumors and colon cancer cell lines, suggesting a link with increased carcinogenesis. Conclusion: The SNP513 in human CALB2 may thus be a predictive marker for colon tumors.

  • Colon cancer
  • calretinin
  • calcium-binding protein
  • EF-hand
  • tumor marker

Footnotes

  • Received June 27, 2007.
  • Revision received August 1, 2007.
  • Accepted September 27, 2007.
  • Copyright© 2007 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved
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Anticancer Research: 27 (6C)
Anticancer Research
Vol. 27, Issue 6C
November-December 2007
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Heterozygosity of SNP513 in Intron 9 of the Human Calretinin Gene (CALB2) is a Risk Factor for Colon Cancer
SILVIA VONLANTHEN, TADEUSZ J. KAWECKI, DANIEL C. BETTICHER, MARTINE PFEFFERLI, BEAT SCHWALLER
Anticancer Research Nov 2007, 27 (6C) 4279-4288;

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Heterozygosity of SNP513 in Intron 9 of the Human Calretinin Gene (CALB2) is a Risk Factor for Colon Cancer
SILVIA VONLANTHEN, TADEUSZ J. KAWECKI, DANIEL C. BETTICHER, MARTINE PFEFFERLI, BEAT SCHWALLER
Anticancer Research Nov 2007, 27 (6C) 4279-4288;
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