INVESTIGATION OF THE RELATIONSHIP OF TNFRSF11A
GENE POLYMORPHISMS WITH BREAST CANCER
DEVELOPMENT AND METASTASIS RISK IN PATIENTS
WITH BRCA1 OR BRCA2 PATHOGENIC VARIANTS
LIVING IN THE TRAKYA REGION OF TURKEY
Özdemir K, Gürkan H, Demir S, Atli E, Özen Y, Sezer A, Tunçbilek N, Çicin İ
*Corresponding Author: Hakan Gürkan, MD, PhD, Department of Medical Genetics, Genetic Diseases
Diagnosis Center, Trakya University Faculty of Medicine, Balkan Campus, 22030 Edirne, Turkey. Tel:
+90-533-218-8005. Fax: +90-284-235-7641. Email: dr_hakangurkan@yahoo.de, hgurkan@trakya.edu.tr
page: 49
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Abstract
Modifying genes play an exclusive role in the genetic
regulation of the risk of breast cancer development in
women with a pathogenic variation of BRCA1 or BRCA2.
Therefore, it has been suggested that TNFRSF11A, which
is among those modifying genes present in breast cancer
development, may have a significant role in patients
with positive BRCA1 or BRCA2 variations. In our study,
we investigated the probable effects of single nucleotide
polymorphisms (SNPs) in the TNFRSF11A gene, such
as rs4485469, rs9646629, rs34739845, rs17069904, rs
884205, rs4941129 on the risk of breast cancer in patients
with BRCA1 or BRCA2 variations. A total of 23 breast
cancer patients with pathogenic variations in the BRCA1
or BRCA2 genes, 28 patients with no pathogenic variations
in the BRCA1 or BRCA2 genes, and 55 healthy women as a
control group, were included in this study. The SNPs were
determined with allelic discrimination analysis through
the real-time polymerase chain reaction (qPCR) method.
There was no statistically significant difference between
the SNPs of the TNFRSF11A gene rs4485469, rs9646629,
rs34739845, rs17069904, rs884205, rs4941129 and metastasis,
estrogen receptor, progesterone receptor and CerB2
receptor positivity between patient and control group (p
>0.05). However, the rs4485469 SNP was found to be
borderline significant between the patient groups with
and without BRCA1 or BRCA2 mutations (p = 0.059).
In patients with BRCA1 or BRCA2 pathogenic variations
living in the Trakya region of Turkey, we could not determine
the relationship between TNFRSF11 SNPs with
breast cancer risk.
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