<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of <italic>BRCA1</italic> or <italic>BRCA2</italic>. Therefore, it has been suggested that <italic>TNFRSF11A</italic>, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive <italic>BRCA1</italic> or <italic>BRCA2</italic> variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the <italic>TNFRSF11A</italic> gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with <italic>BRCA1</italic> or <italic>BRCA2</italic> variations. A total of 23 breast cancer patients with pathogenic variations in the <italic>BRCA1</italic> or <italic>BRCA2</italic> genes, 28 patients with no pathogenic variations in the <italic>BRCA1</italic> or <italic>BRCA2</italic> 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 <italic>TNFRSF11A</italic> gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (<italic>p</italic> >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without <italic>BRCA1</italic> or <italic>BRCA2</italic> mutations (<italic>p</italic> = 0.059). In patients with <italic>BRCA1</italic> or <italic>BRCA2</italic> pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between <italic>TNFRSF11</italic> SNPs with breast cancer risk.</p></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.

Investigation of the relationship of <italic>TNFRSF11A</italic> gene polymorphisms with breast cancer development and metastasis risk in patients with <italic>BRCA1</italic> or <italic>BRCA2</italic> pathogenic variants living in the Trakya region of Turkey

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Investigation of the relationship of  gene polymorphisms with breast cancer development and metastasis risk in patients with  or  pathogenic variants living in the Trakya region of Turkey

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...

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

Article Category: Original article

Publicado en línea: 23 mar 2021

Páginas: 49 - 58

DOI: https://doi.org/10.2478/bjmg-2020-0016

Palabras clave
Breast cancer, Single nucleotide polymorphism (SNP), gene

© 2020 Özdemir K, Gürkan H, Demir S, Atli E, Özen Y, Sezer A, Tunçbilek N, Çicin İ, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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

Article Category: Original article

Publicado en línea: 23 mar 2021

Páginas: 49 - 58

DOI: https://doi.org/10.2478/bjmg-2020-0016

Palabras claveBreast cancer, Single nucleotide polymorphism (SNP), gene

© 2020 Özdemir K, Gürkan H, Demir S, Atli E, Özen Y, Sezer A, Tunçbilek N, Çicin İ, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Palabras clave
Breast cancer, Single nucleotide polymorphism (SNP), gene