GA GENOTYPE OF THE ARG280HIS POLYMORPHISM ON
THE XRCC1 GENE: GENETIC SUSCEPTIBILITY GENOTYPE
IN DIFFERENTIATED THYROID CARCINOMAS?
Kirnap NG1,*, Tutuncu NB1,2, Yalcin Y2, Cebi HPB2, Tutuncu T2,3, Nar A1, Verdi H2, Atac FB2
*Corresponding Author: Nazlı G. Kirnap, M.D., Department of Endocrinology and Metabolism,
Başkent University Faculty of Medicine, Taskent Caddesi No. 77, Bahcelievler, 06490, Ankara, Turkey.
Tel.: +90-(0)312-203-6868. Fax: +90-(0)312-304-2700. E-mail: kirnapnazli@hotmail.com
page: 73
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INTRODUCTION
More than 90.0% of thyroid carcinoma, the most common
endocrine malignancy, is constituted by differentiated
thyroid carcinomas (DTC) [1]. Exact mechanisms leading
to DTC have not yet been clarified. Exposure to ionizing
radiation at a young age seems to be the most prominent
risk factor [2]. Currently, numerous studies are trying to
define other environmental risk factors for thyroid cancer,
including obesity, smoking and other chemicals [3,4].
Our knowledge of the molecular mechanism behind
DTC has increased rapidly. The role of genetic variations
in the development of papillary thyroid carcinoma (PTC)
is about 60.0-70.0%. Among these variations are point
mutations in the B-type rapidly growing fibrosarcoma
kinase (BRAF) and rat sarcoma (RAS) genes, and rearranged
during transfection(RET)/PTC thyrosine kinase
rearrangements. All these genetic variations lead to the
development of cancer by activating a mitogen-activated
protein kinase (MAPK) pathway [2,3,5]. As a result of its
continuous exposure to DNA damaging agents, there is a
constant generation of abasic sites, different base damage
and single-stranded breaks in the human genome. To repair
these lesions, base excision repair, nucleotide excision
repair, and single-strand break repair (SSBR) pathways
are used. To repair delaminated bases and oxidatively
damaged bases due to reactive oxygen species, base excision
repair is considered the major pathway. A skeleton
protein encoded by X-ray repair cross-complementing group 1 (XRCC1) is involved in the repair mechanism of
a SSBR, whereas to repair DNA damage due to ionizing
radiation, alkylating agents and oxidation, base excision
repair (BER) is induced. There is evidence indicating that
different XRCC1 mutations disrupt protein function, either
by altering substrate binding or by introducing changes in
the catalytic domain [6].
In addition to several point mutations, genomic polymorphisms
of the XRCC1 gene were reported as the most
common single nucleotide polymorphisms (SNPs) with
effects on the relevant function of the protein. The potential
biological significance of the three most common XRCC1
(Arg399Gln, Arg194Trp and Arg280His) poly-morphisms
has been investigated in numerous studies. There are only
very few studies investigating these genomic variations concerning
the clinical findings in thyroid cancer patients [6,7].
The present case-control study aimed to compare the
genotype frequency distributions of three common XRCC1
SNPs in DTC patients and cancer-free controls in terms
of various predefined clinical characteristics, such as the
presence of Hashimoto’s thyroiditis, smoking, obesity,
radiation exposure, and family history of thyroid cancer.
For this purpose, the association of the XRCC1 SNP was
analyzed, and the presence of other risk factors (presence
of Hashimoto’s thyroiditis, smoking, obesity, radiation exposure)
were investigated in patients with thyroid nodules
who underwent fine-needle aspiration biopsy (FNAB) and/
or thyroid surgery for thyroid cancer.
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