PP39. MOLECULAR ANALYSIS OF MUTATIONS FOR THE APC GENE IN ROMANIAN PATIENTS WITH COLORECTAL CANCER
M. TOMA1, L. Belusica3, D. Cimponeriu2, Pompilia Apostol2, Monica Stavarachi2, Ioana Dumitrescu3, Anne Marie Craciun3, Usurelu Dana2, Irina Radu2, L. Gavrila2 1. Clinical Emergency Military Central Hospital, Bucharest, 2. Institute of Genetics, Bucharest , 3. Clinical Hospital Dr. Cantacuzino, Bucharest. e-mail: iahim_t@yahoo.com
*Corresponding Author:
page: 64

Abstract

The estimated incidence of colorectal cancer (CRC) in Romania was 18,55/100.000 inhabitants (2000). It has been recorded a significance increase of this value in the last 10 years. Germline and somatic mutations in adenomatous polyposis coli (APC) gene has been directly implicated in the development of human CRC. Mutations in APC gene have not previously been characterized among Romanian patients with CRC. We conduct this study to detect the mutations in APC gene in samples from CRC patients. We analyzed blood and tumor samples collected from 12 patients (6 men and 6 women) and 32 relatives without CRC. We tested the presence of mutations in exons 6, 7, 12, 13, 14 and in regions B, L and W of exon 15 by PCR multiplex and 5 bp deletions at position 1061 by SSCP methods. We observed multiple deletions (e.g. in exon 6, 12, and in 15B, 15L and 15W regions) in a DNA extracted form the tumoral sample, but not in blood cell. We speculated that these mutations are an exa mple of genomic instability described in malignancies. In other patient, we detected a deletion of exon 13 in DNA extracted from blood and tumoral tissues. For the patients analyzed until now we didn't find any mutation at codon 1061. This study was conducted to examine the possibility of using molecular analyses to improve identification of subjects with mutations in APC gene and patients with CRC in Romanian population.




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