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. 2017 Dec 29;20(2):83-88.
doi: 10.1515/bjmg-2017-0028. eCollection 2017 Dec.

Detection of Allelic Variants of the POLE and POLD1 Genes in Colorectal Cancer Patients

Pätzold LA  1 , Bērziņa D  1 , Daneberga Z  1 , Gardovskis J  1 , Miklaševičs E  1
Affiliations

Detection of Allelic Variants of the POLE and POLD1 Genes in Colorectal Cancer Patients

Pätzold LA et al. Balkan J Med Genet. .

Abstract

Incidence of colorectal cancer is high worldwide and it mostly occurs as an accumulation of environmental factors and genetic alterations. Hereditary colorectal cancer can develop as a part of a hereditary syndrome. There is a suspected correlation between colorectal cancer and allelic variants of the POLE and POLD1 genes. The aim of the present study was to look for associations between the allelic variants in the POLE and POLD1 genes and colorectal cancer. One thousand, seven hundred and forty-nine DNA samples from colorectal cancer patients were collected from 2002 to 2013. Samples were divided in three groups: hereditary colorectal cancer patients, patients with different hereditary cancer syndromes in their families and patients with no cancer history in their families. The DNA samples were screened for allelic variants of POLE rs483352909 and POLD1 rs39751463 using denaturing high performance liquid chromatography (DHPLC). All patients were negative for allelic variants rs483352909 of the POLE gene and rs397514632 of the POLD1 gene. One allelic variant rs373243003 in the POLE gene and one novel duplication of four nucleotides at the excision site between intron and exon (c.1384-5dupCCTA) in the POLD1 gene, was found. We could not detect or confirm the connection between the genetic variants in the POLD1 and POLE genes and colorectal cancer patients, but we detected a novel genetic variant with an unknown significance.

Keywords: Colorectal cancer; POLD1 gene; POLE gene; denaturing high performance liquid chromatography (DHPLC).

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Figures

Figure 1
Figure 1
Chromatographic analysis of POLD1 in negative control DNA sample (WT) and positive control DNA sample (PC).
Figure 2
Figure 2
Capillary electrophoresis of POLD1 positive control DNA sample.
Figure 3
Figure 3
Chromatographic analysis of POLE, positive sample (V) compared to negative control sample (WT) and capillary electrophoresis of positive sample, revealing the POLE c.1227-49C>T variant.
Figure 4
Figure 4
Chromatographic analysis of POLD1, positive sample (V) compared to negative control sample (WT) and capillary electrophoresis of positive sample, revealing the POLD1 c.1384-5dupCCTA variant.
See this image and copyright information in PMC

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