RT Journal Article
SR Electronic
T1 Heterozygosity of SNP513 in Intron 9 of the Human Calretinin Gene (<em>CALB2</em>) is a Risk Factor for Colon Cancer
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 4279
OP 4288
VO 27
IS 6C
A1 SILVIA VONLANTHEN
A1 TADEUSZ J. KAWECKI
A1 DANIEL C. BETTICHER
A1 MARTINE PFEFFERLI
A1 BEAT SCHWALLER
YR 2007
UL http://ar.iiarjournals.org/content/27/6C/4279.abstract
AB 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. Copyright© 2007 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved