Balkan Journal of Medical Genetics

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

RESULTS

A total of 106 individuals, consisting of 51 patients (23 patients with BRCA1 or BRCA2 mutations and 28 patients without BRCA1 or BRCA2 mutations) and 55 controls, were included in the study. The demographic information of the patients (with and without BRCA1 or BRCA2 mutations) and those in the control group is provided in Table 1. There were no statistically significant differences in the genotype frequencies of the rs4485469, rs9646629, rs34739845, rs17069904, rs884205 and rs4941129 SNPs in the TNFRSF11A gene between the patients (with and without BRCA1 or BRCA2 mutations) and those in the control group (p >0.05) (Table 2). There were also no statistically significant differences detected in the genotype frequencies of the rs9646629, rs34739845, rs17069904, rs884205 and rs4941129 SNPs in the TNFRSF11A gene between the patient group with and without BRCA1 or BRCA2 mutations (p >0.05). However, rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059) (Table 3). Metastasis is a part of the clinical staging of patients with breast cancer, and the development and function of hormone receptors, estrogen and progesterone and CerbB2 oncoprotein that is one of the molecular prognostic factors, are important in terms of determining the prognosis and treatment method for the disease. These prognostic factors were used to identify the clinical and biological behavioral differences in patients with breast cancer and those in the high-risk group for whom the disease can develop rapidly. In our study, the results of metastasis, estrogen, progesterone and cerbB2 assessment, which were requested for routine examination in the patient group, were also evaluated. No statistically significant differences were detected between the genotype frequencies of the rs4485469, rs9646629, rs34739845, rs17069904, rs884205 and rs4941129 SNPs and metastasis in the patient group (p >0.05) (Table 4). Furthermore, there was no statistically significant difference found between metastasis status and the rs4485469, rs9646629, rs34739845, rs17069904, rs884205 and rs4941129 SNPs in the TNFRSF11A gene for patients both with and without BRCA1 or BRCA2 mutations (Table 5). In patients with or without BRCA1 or BRCA2 mutations, no statistically significant differences were detected between estrogen receptor status, progesterone receptor status and CerbB2 status and the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205 and rs4941129 SNPs genotype frequencies (Table 6, Table 7 and Table 8).

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