Vonlanthen, Sivia Kawecki, Tadeusz J. Betticher, Daniel C. Pfefferli, Martine Schwaller, Beat 2007 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. application/pdf https://folia.unifr.ch/global/documents/300728 https://folia.unifr.ch/documents/300728/files/schwaller_hsi.pdf eng https://ar.iiarjournals.org/content/27/6C/4279 info:eu-repo/semantics/openAccess License undefined Anticancer Research. - 2007, vol. 27, no. 6C, p. 4279-4288 info:eu-repo/classification/udc/57 Heterozygosity of SNP513 in intron 9 of the human calretinin gene (CALB2) is a risk factor for colon cancer http://purl.org/coar/resource_type/c_6501