Association study of rs1219648 in FGFR2 and rs1042522 in TP53 with premenopausal breastcancer in an Iranian Azeri population

Breast cancer is the most common cancer among women in the world. In Iran, the incidence of breast cancer is on the increase. We 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 the proportion of epistatic effect on the risk of breast carcinogenesis.We genotyped two polymorphisms (rs1219648 and rs1042522) in 100 women with early onset breast cancer and 100 healthy women by PCR-RFLP. Allele frequency differences were tested using chi2-test with 95% confident interval.Our results indicated statistically significant association (P < 0.05) between rs1219648 and risk of breast cancer but rs1042522 was not associated with breast cancer (p> 0.05). We also found that the combination of FGFR2 major genotype and TP53 hetero genotype have protective effect against breast cancer however the hetero allele of FGFR2 in combination with the minor genotype of TP53 was associated with a high risk of breast cancer. This study revealed an important crosstalk between two polymorphisms in FGFR2 and TP53 in developing breast cancer. These candidates of risk variants can be further evaluated in studies with a larger sample size.

Keywords:

early onset breast cancer , FGFR2 , TP53 , Single nucleotide polymorphism