Association of rs1219648 in FGFR2 and rs1042522 in TP53 with Premenopausal Breast Cancer in an Iranian Azeri Population

Abstract

Breast cancer is the most common cancer among women in the world. In Iran, the incidence of breast cancer is on the increase. We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. We genotyped the two polymorphisms in 100 women with early onset breast cancer and 100 healthy women by PCR-RFLP. Allele frequency differences were tested using chi 2 -test with 95% confident intervals. Our results indicated a statistically significant association (p<0.05) between rs1219648, but not rs1042522, and risk of breast cancer. We also found that the combination of FGFR2 major genotype and TP53 hetero genotype had protective effects against breast cancer , while the hetero allele of FGFR2 in combination with the minor genotype of TP53 was associated with a high risk. This study revealed an important crosstalk between two polymorphisms in FGFR2 and TP53 in development of breast cancer. These candidates risk variants should be further evaluated in studies with a larger sample size.

14-bp Insertion/Deletion Polymorphism of the HLA-G gene in Breast Cancer among Women from North Western Iran

“…The meta-analysis study suggested that HLA-G 14-bp InDel polymorphism might contribute to breast cancer susceptibility and overall cancer risk among Asians (Yz et al, 2014). In Azeri population of Iran located north western Iran, There is growing study performed that tried to access the association between some polymorphisms and breast cancer Saadatian et al, 2014;Sedaie et al, 2014). Until, in this population there is no report on HLA-G polymorphisms in breast cancer.…”

TP53 (RS1042522) Polymorphism In Breast Cancer

“…For further studies, TP53 (rs1042522) polymorphism may be associated with other genetic factors because p53 interacts with various proteins that play role in programmed cell death 5,9 . For instance, it has been evaluated that some fibroblast growth factor receptor 2(FGFR2) gene polymorphisms are 3 0 associated with breast cancer and FGFR2 gene accomplishes its function in a p53-dependent manner.…”

“…For instance, it has been evaluated that some fibroblast growth factor receptor 2(FGFR2) gene polymorphisms are 3 0 associated with breast cancer and FGFR2 gene accomplishes its function in a p53-dependent manner. Activation of apoptosis is stimulated by interaction between FGFR2 and TP53 5 . Other genes synthesizing proteins that control cell cycle such as cyclins, cyclin-dependent kinases and p21 protein as a cyclin-dependent kinase inhibitor 1 can also be correlated with breast cancer risk.…”

“…TP53 gene, located on chromosome 17q13, is one of the most important tumour suppressor gene that encodes p53 transcription factor 7 . P53 has a regulatory function in repair of DNA damage, cell apoptosis, cell senescence and cell cycle control through inhibition of cell division when irretrievable DNA damage occurs 5,7,8 . Beside DNA damage, it has a central role in stress responses such as hypoxia, metabolite stress and oncogene activation to protect genomic stability 9 .…”

“p53 Polymorphism at Codon 72 and Breast Cancer” - Letter

“…A key characteristic of a systematic review is a comprehensive search to find eligible studies. This study has been conducted between 2007 and 2014, however, one study has been missed 2. According to the date of publication, a study published in 2015 has also been missed 3.…”