Association of rs 9340799 and rs 224693 SNPs in Estrogen Receptor Gene with Breast Cancer

It was attempted to molecularly characterize breast cancer patients of district Bannu, KP, Pakistan for any possible polymorphism in the estrogen receptor (ESR1) gene. Blood samples in this regard were collected from clinically diagnosed eighteen breast cancer patients, all possessing invasive ductal carcinoma. DNA was amplified through PCR for 2 different sequences of ESR1 gene. Twelve normal individuals of different ages were also characterized. Amplified products were digested with Xbal and Pvull restriction enzymes and were electrophoresed to visualize single nucleotide polymorphisms (SNPs); rs9340799 (G>A) and rs2234693 (C>T) in ESR1 gene. The amplified product of 524bp of rs9340799 sequence of ESR1 gene was treated with Xbal restriction enzyme while amplified product of 451bp of rs2234693 sequence was treated with PvuII restriction enzyme. Nine patients were found homozygous and 8 were heterozygous for minor allele while 1 patient was carrying major allele. For rs2234693, all the patients were carrying major allele. All the normal individuals were lacking the above stated 2 SNPs. There is thus strong correlation between SNPs of ESR1 gene and breast cancer and hence, can be used as a significant marker in the determination of breast cancer.