<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_raon-2016-0043_s_001_w2aab3b8c18b1b7b1aab1c15b1Aa"><h3>Background</h3><p>Colorectal cancer (CRC) represents one of the most common malignancies worldwide. Research has indicated that functional gene changes such as single nucleotide polymorphism (SNP) influence carcinogenesis and metastasis and might have an influence on disease relapse. The aim of our study was to evaluate the role of SNPs in selected genes as prognostic markers in resectable CRC.</p></sec><sec id="j_raon-2016-0043_s_002_w2aab3b8c18b1b7b1aab1c15b2Aa"><h3>Patients and methods</h3><p>In total, 163 consecutive patients treated surgically for CRC of stages I, II and III at the University Medical Centre in Maribor in 2007 and 2008 were investigated. DNA was isolated from formalin-fixed paraffin-embedded CRC tissue from the Department of Pathology and SNPs in genes <italic>SDF-1a, MMP7, RAD18</italic> and <italic>MACC1</italic> were genotyped using polymerase chain reaction followed by high resolution melting curve analysis or restriction fragment length polymorphism.</p></sec><sec id="j_raon-2016-0043_s_003_w2aab3b8c18b1b7b1aab1c15b3Aa"><h3>Results</h3><p>We found worse disease-free survival (DFS) for patients with TT genotype of SNP rs1990172 in gene <italic>MACC1</italic> (p = 0.029). Next, we found worse DFS for patients with GG genotype for SNP rs373572 in gene <italic>RAD18</italic> (p = 0.020). Higher frequency of genotype GG of <italic>MMP7</italic> SNP rs11568818 was found in patients with T3/T4 stage (p = 0.014), N1/N2 stage (p = 0.041) and with lymphovascular invasion (p = 0.018). For <italic>MACC1</italic> rs1990172 SNP we found higher frequency of genotype TT in patients with T3/T4 staging (p = 0.024). Higher frequency of genotype GG of <italic>RAD18</italic> rs373572 was also found in patients with T1/T2 stage with disease relapse (p = 0.041).</p></sec><sec id="j_raon-2016-0043_s_004_w2aab3b8c18b1b7b1aab1c15b4Aa"><h3>Conclusions</h3><p>Our results indicate the role of SNPs as prognostic factors in resectable CRC.</p></sec></abstract>

BackgroundColorectal cancer (CRC) represents one of the most common malignancies worldwide. Research has indicated that functional gene changes such as single nucleotide polymorphism (SNP) influence carcinogenesis and metastasis and might have an influence on disease relapse. The aim of our study was to evaluate the role of SNPs in selected genes as prognostic markers in resectable CRC.Patients and methodsIn total, 163 consecutive patients treated surgically for CRC of stages I, II and III at the University Medical Centre in Maribor in 2007 and 2008 were investigated. DNA was isolated from formalin-fixed paraffin-embedded CRC tissue from the Department of Pathology and SNPs in genes SDF-1a, MMP7, RAD18 and MACC1 were genotyped using polymerase chain reaction followed by high resolution melting curve analysis or restriction fragment length polymorphism.ResultsWe found worse disease-free survival (DFS) for patients with TT genotype of SNP rs1990172 in gene MACC1 (p = 0.029). Next, we found worse DFS for patients with GG genotype for SNP rs373572 in gene RAD18 (p = 0.020). Higher frequency of genotype GG of MMP7 SNP rs11568818 was found in patients with T3/T4 stage (p = 0.014), N1/N2 stage (p = 0.041) and with lymphovascular invasion (p = 0.018). For MACC1 rs1990172 SNP we found higher frequency of genotype TT in patients with T3/T4 staging (p = 0.024). Higher frequency of genotype GG of RAD18 rs373572 was also found in patients with T1/T2 stage with disease relapse (p = 0.041).ConclusionsOur results indicate the role of SNPs as prognostic factors in resectable CRC.

Single nucleotide polymorphisms in genes <italic>MACC1, RAD18, MMP7</italic> and <italic>SDF-1a</italic> as prognostic factors in resectable colorectal cancer

Centre for Human Molecular Genetics and Pharmacogenomics

Faculty of Medicine, University of Maribor

Laboratory for Biochemistry, Molecular Biology and Genomics

Department of General and Abdominal Surgery

Radiology and Oncology

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Single nucleotide polymorphisms in genes  and  as prognostic factors in resectable colorectal cancer

BackgroundColorectal cancer (CRC) represents one of the most common malignancies worldwide. Research has indicated that functional gene changes such as single...

Single nucleotide polymorphisms in genes MACC1, RAD18, MMP7 and SDF-1a as prognostic factors in resectable colorectal cancer

Article Category: Research Articles

Published Online: Sep 08, 2016

Page range: 151 - 159

Received: Feb 05, 2016

Accepted: May 27, 2016

DOI: https://doi.org/10.1515/raon-2016-0043

© 2017 Matej Horvat, Uros Potocnik, Katja Repnik, Rajko Kavalar, Vesna Zadnik, Stojan Potrc, Borut Stabuc

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.