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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MATERIALS AND METHODS
A total of 106 individuals were included in the study,
of which 51 were patients diagnosed with breast cancer
and 55 were healthy controls. The average age of those in
the group diagnosed with breast cancer was 44.8, while
the average age of those in the healthy control group was
determined to be 44.0.
Of the 51 breast cancer patients who were included
in the patient group of the study, a total of 23 female patients
had been living in the Trakya region of Turkey for
at least three generations, were not related to each other,
were diagnosed with breast cancer and were determined to
have BRCA1 and/or BRCA2 mutations; 28 female patients
presented without a BRCA1 and/or BRCA2 mutation.
Of the 55 women in the control group, who volunteered
to participate in the study, all were also living in
the Trakya region for at least three generations, were not
related to each other, were older than 18 years of age, were not diagnosed with familial breast cancer, had no history
of breast-related disease during previous examinations
and did not have any complaints about their breasts and
ovaries. The Informed Volunteer Consent Form was signed
by both the patients and the individuals in the control
group, which contained information about the study and
certified their approval. The study was approved by the
Trakya University Faculty of Medicine Scientific Research
Ethics Committee. The decision number was 16/03 with
the numbered document TÜTF-BAEK 2016/219 on September
28, 2016 after the reason, purpose, approach and
methods of the study were examined.
Peripheral venous blood samples of 2.5 μL were
drawn from the patients and those in the control groups,
and genomic DNA was extracted using an EZ1 Advanced
XL (Qiagen GmbH, Hilden, Germany) nucleic acid isolation
device with the EZ1 DNA Blood 200 μL isolation
kits (Qiagen GmbH). The concentration and purity values
of the genomic DNA samples were measured with
the Nano Drop 2000C device (Thermo Fisher Scientific,
Wilmington, DE, USA) at wavelengths of 260/280 nm.
Genomic DNA samples with an absorbance value at 1.5-
2.0 and a concentration value of 20.0-80.0 ng/μL were
included in the study. Then, allelic discrimination was
performed through a real-time polymerase chain reaction
(qPCR) process using the TaqManŽ SNP Genotyping Assay
kit (Applied Biosystems, Foster City, CA, USA) for
rs4485469, rs9646629, rs34739845, rs17069904, rs884205
and rs4941129 SNPs.
Statistical Analyses. In the study, patient and control
group data were analyzed with the Statistical Package for
the Social Sciences (SPSS) version 16.0 software (SPSS
Inc., Chicago, IL, USA). Demographic data of the patient
and control groups were interpreted by obtaining
the numbers (n), %, χ2, mean, minimum and maximum
values, and averages.
The genotype frequencies of the rs4485469,
rs9646629, rs34739845, rs17069904, rs884205 and
rs4941129 SNPs in the TNFRSF11A gene of the breast
cancer patients (with and without BRCA1 or BRCA2 mutations)
and the control group were analyzed. In addition,
TNFRSF11A rs4485469, rs9646629, rs34739845,
rs17069904, rs884205, rs4941129 SNPs genotypes were
compared according to metastasis, estrogen receptor (ER),
progesterone receptor (PR), CerbB2 receptor positivity
status of the patients with and without BRCA1/BRCA2
mutation.
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