<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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 <italic>POLE</italic> and <italic>POLD1</italic> genes. The aim of the present study was to look for associations between the allelic variants in the <italic>POLE</italic> and <italic>POLD1</italic> 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 <italic>POLE</italic> rs483352909 and <italic>POLD1</italic> rs39751463 using denaturing high performance liquid chromatography (DHPLC). All patients were negative for allelic variants rs483352909 of the <italic>POLE</italic> gene and rs397514632 of the <italic>POLD1</italic> gene. One allelic variant rs373243003 in the <italic>POLE</italic> gene and one novel duplication of four nucleotides at the excision site between intron and exon (c.1384-5dupCCTA) in the <italic>POLD1</italic> gene, was found. We could not detect or confirm the connection between the genetic variants in the <italic>POLD1</italic> and <italic>POLE</italic> genes and colorectal cancer patients, but we detected a novel genetic variant with an unknown significance.</p></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.

Detection of allelic variants of the <italic>POLE</italic> and <italic>POLD1</italic> genes in colorectal cancer patients

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Detection of allelic variants of the  and  genes in colorectal cancer patients

Incidence of colorectal cancer is high worldwide and it mostly occurs as an accumulation of environmental factors and genetic alterations. Hereditary...

Detection of allelic variants of the POLE and POLD1 genes in colorectal cancer patients

Article Category: Original Article

Pubblicato online: 29 dic 2017

Pagine: 83 - 87

DOI: https://doi.org/10.1515/bjmg-2017-0028

Parole chiave
Colorectal cancer, denaturing high performance liquid chromatography (DHPLC), gene, gene

© 2017 Pätzold LA, Bērziņa D, Daneberga Z, Gardovskis J, Miklaševičs E, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

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Detection of allelic variants of the POLE and POLD1 genes in colorectal cancer patients

Article Category: Original Article

Pubblicato online: 29 dic 2017

Pagine: 83 - 87

DOI: https://doi.org/10.1515/bjmg-2017-0028

Parole chiaveColorectal cancer, denaturing high performance liquid chromatography (DHPLC), gene, gene

© 2017 Pätzold LA, Bērziņa D, Daneberga Z, Gardovskis J, Miklaševičs E, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Figure 2

Figure 3

Figure 4

Parole chiave
Colorectal cancer, denaturing high performance liquid chromatography (DHPLC), gene, gene