The rs۴۴۱۵۰۸۴ and rs۱۰۹۴۱۶۷۹ Might be Risk Conferring Factors for Breast Cancer among Iranian Women

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 ۵q۱۲ play a critical role in breast cancer susceptibility. Therefore, this study aims to determine the association of rs۴۴۱۵۰۸۴ (T>C) and rs۱۰۹۴۱۶۷۹ (A>G) with breast cancer risk in an Iranian sample population. Peripheral blood samples, taken from ۷۲ patients and ۶۵ 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 (۷۵% for either receptor) and ۳۶ % were human epidermal growth factor receptor-۲ (HER۲) positive. Also, the majority of the tumors were at T۲ (۵۹.۷ %), N۰ (۴۱.۶ %), and M۰ (۸۶.۱ %) grade. Moreover, a considerable association between the rs۱۰۹۴۱۶۷۹ polymorphism and breast cancer was noticed (p=۰.۰۱) with significantly increased susceptibility of AG genotype. Genotyping of rs۴۴۱۵۰۸۴ also revealed that TC and CC genotypes significantly increased breast cancer risk. This work revealed that the rs۴۴۱۵۰۸۴ and rs۱۰۹۴۱۶۷۹ at ۵q۱۲ might be risk-conferring factors for breast cancer among Iranian women, which could be employed in breast cancer screening and prognosis approaches.

Keywords:

۵q۱۲ genetic variants , Breast cancer , rs۴۴۱۵۰۸۴ (T>C) , rs۱۰۹۴۱۶۷۹ (A>G) , Tetra-ARMS-PCR