The rs4415084 and rs10941679 Might be Risk Conferring Factors for Breast Cancer among Iranian Women

Document Type : Research Article


1 Department of Biology, Rasht Branch, Islamic Azad University, Rasht, Iran

2 National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

3 Cancer Pharmacogenetics Research Group (CPGRG), Iran University of Medical Sciences, Tehran, Iran


Breast cancer is a major cause of cancer-associated death among Iranian women with an increasing trend in breast cancer incidence in recent years. However, few data about genetic determinants associated with breast cancer among Iranian females are available. According to the literature, the genetic variants at the non-coding region of 5q12 play a critical role in breast cancer susceptibility. Therefore, this study aims to determine the association of rs4415084 (T>C) and rs10941679 (A>G) with breast cancer risk in an Iranian sample population. Peripheral blood samples, taken from 72 patients and 65 controls, were subjected to DNA extraction and genotyping of the mentioned polymorphism by Tetra-primer amplification refractory mutation system PCR (Tetra-ARMS-PCR) assay. Also, the demographic characteristics of the participants were obtained. The results show that the majority of patients had estrogen-receptor (ER) and progesterone-receptor (PR) positive tumors (75% for either receptor) and 36 % were human epidermal growth factor receptor-2 (HER2) positive. Also, the majority of the tumors were at T2 (59.7 %), N0 (41.6 %), and M0 (86.1 %) grade. Moreover, a considerable association between the rs10941679 polymorphism and breast cancer was noticed (p=0.01) with significantly increased susceptibility of AG genotype. Genotyping of rs4415084 also revealed that TC and CC genotypes significantly increased breast cancer risk. This work revealed that the rs4415084 and rs10941679 at 5q12 might be risk-conferring factors for breast cancer among Iranian women, which could be employed in breast cancer screening and prognosis approaches.


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