DETECTION OF ALLELIC VARIANTS OF THE POLE AND
POLD1 GENES IN COLORECTAL CANCER PATIENTS
Pätzold LA, Bērziņa D, Daneberga Z, Gardovskis J, Miklaševičs E*
*Corresponding Author: Professor Dr. Edvīns Miklaševičs, Institute of Oncology, Riga Stradiņš University, Dzirciema iela 16,
Riga LV1007, Latvia. Tel: +371-6770-4028. Fax: +371-6706-9545. E-mail: edvins. miklasevics@rsu.lv
page: 83
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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.
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