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Abstract Estrogen receptors (ERs) are members of the nuclear receptor (NR) superfamily that mediate the pleiotropic effects of the steroid hormone estrogen in a diverse range of developmental and physiological processes. Although estrogens are important physiological regulators in the reproductive system, in bone metabolism, and in the maintenance of the cardiovascular and central nervous systems, they have also been associated pathologically with an increased risk for breast and endometrial cancer. The association of ER-α genetic polymorphisms with breast cancer risk attracts much attention because ER functions as a hormone-dependent transcriptional regulator, which, in turn, plays a significant role in the development of breast cancer. So this study was conducted to find if there is an association between genetic polymorphisms in the estrogen receptor α gene and breast cancer in Egyptian females. A total of 70 Egyptian women attending the Oncology Center and General Surgery Departments in Mansoura University Hospital were included.The selected women were divided into 3 groups: 25 women with breast cancer were included in this study as breast cancer cases. 20 women with benign breast tumors. 25 women who were clinically free from any malignancy or breast masses and age matched with cases were served as a control group. All patients and controls were subjected to Full history taking, complete clinical examination including measuring weight and heights and a structured questionnaire was used to elicit detailed information on age, menstrual and reproductive histories, prior breast disease history, hormone use, smoking & alcohol drinking. DNA was isolation from whole blood and utilized for detection of PvuII and XbaI polymorphisms of estrogen receptor alpha gene by polymerase chain reaction (PCR) and restriction enzymes followed by agarose gel electrophoresis. Tissue sections from breast tumors for immunohistochemistry staining of Estrogen and Progesterone receptors. The P allele was more prevalent among controls (56%) than cases (40%) in PvuII polymorphism. The presence of p allele was significantly associated with cancer breast (P = 0.031) Odd ratios (ORs) for genotypes Pp and pp were 5.5 (95% CI, 0.9 – 13.9) and 3.9 (95% CI, 0.6 – 8.2) respectively, comparing to genotype PP. There was statistically significant (P = 0.021) decrease in the age of menarche and insignificant differences in the age of menopause of individuals with presence of PvuII restriction site. There was statistically insignificant changes in the X allele distribution among controls (44%) and cancer cases (30%) in XbaI polymorphism. There was statistically very highly significant (P < 0.001) decrease in the age of menarche and insignificant differences in the age of menopause of individuals with presence of XbaI restriction site. There is no significant association between estrogen receptors α gene PvuII and XbaI polymorphisms and estrogen/progesterone receptors status in breast cancer. Results from this study may support the development of genetic polymorphisms that are associated with breast cancer risk independently of the epidemiological risk factors to assess the individual risk more precisely for early detection of breast cancer. |