Breast cancer (BC) is the most common cancer and the second cause of mortality in women all around the world. It is caused by several factors including genetic determinants, so that both genetic susceptibility factors and environmental factors are involved in the etiology. Significance of genes functioning in steroid hormone synthesis and metabolism are well established in breast cancer susceptibility. In this study, 134 women with BC and 135 normal controls were analyzed for their genotypes for the polymorphisms, rs743572, rs10046 and rs4646903, resided in CYP17, CYP19 and CYP1A1 genes, respectively. Significant differences in distributions of allele and genotype frequencies were found for the rs10046 polymorphism in CYP19 (p-value=0.01, OR (CI 95%) =1.59 (1.1-2.3), p-value=0.04, OR (CI 95%) =1.7 (1.1-2.5) respectively). For rs743,572 and rs 4646903 polymorphisms, no significant associations were observed. A significant association was observed between the rs10046 polymorphism of the CYP19gene and breast cancer in Iranian patients. Due to inconsistent previous results, more studies in different populations with larger sample sizes are indicated.
Context: Pelvic masses are a prevalent cause for referral to gynecologic oncology departments to evaluate the possibility of benign or malignant conditions. Pelvic mass often was found in pelvic examinations among females with ovarian. Tumor markers are advantageous biomarker in tumor diagnosis. Evidence Acquisition: We performed a computerized search in Medline/PubMed databases and Google Scholar with key words: "Cancer antigen 125 (CA125), Human epididymis protein 4 (HE4), risk of ovarian malignancy algorithm (ROMA), Risk of malignancy index (RMI), and Pelvic mass". Results: The usage of tumor marker CA125 alone is associated with serious limitations like low sensitivity for early or stage I disease and lack of specificity especially in pre-menopausal women. Serum HE4 is a good biomarker for discriminating ovarian cancer from benign pelvic disease, but could be affected by several factors including pregnancy, age, and smoking. ROMA has a high sensitivity, specificity, and negative predictive value to predict the presence of ovarian cancer in women with a pelvic mass. RMI could differentiate between benign and malignant pelvic masses, but RMI expression was higher in women with 55 years or more. Conclusions: According to the results of this study, combination of these biomarkers or at least 2 or 3 biomarkers are suggested for early stage diagnosis of pelvic mass with high sensitivity and specificity.
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