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The progesterone receptor gene (PROGINS) has been identified as a risk modifier for benign and malignant gynecological diseases. The present case-control study is to evaluate the role of the PROGINS polymorphisms, as risk factor, for endometrial cancer development and to investigate the association between these genetics variants and clinical/pathologic variables of endometrial cancer. PROGINS polymorphism was examined in a total of 121 patients with endometrial cancer and 282 population-based control subjects, all located at the same area in São Paulo, SP, Brazil. The genotyping of PROGINS polymorphism was determined by polymerase chain reaction. The frequencies of PROGINS polymorphism T1/T1, T1/T2, and T2/T2 were 82.6%, 14.9%, and 2.5% in the endometrial cancer patients and 78.4%, 21.6%, and 0% in the controls, respectively. The chi(2) test showed a higher incidence of the T2/T2 genotype in the endometrial cancer group subjects, these results were statistically different (P= 0.012). However, due to the fact that there were no women in the control group showing homozygosis for the allele T2, the correct evaluation of odds ratio could not be properly calculated. Regarding the clinical and pathologic findings observed within the group of patients with endometrial cancer, there was significant correlation between T1/T2 genotype and the presence of myoma (P= 0.048). No correlations were observed among the other variables. These data suggest that the PROGINS polymorphism T2/T2 genotype might be associated with an increased risk of endometrial cancer.

Associations have been found between the angiotensin-converting enzyme insertion deletion (I/D) polymorphism (ACE I/D) and endometrial and epithelial ovarian cancer (EC and EOC, respectively). In this study, the following frequencies for each of three ACE polymorphisms, DD, ID, and II, respectively, were observed: in the EC group, 55, 24, and 21% versus the control group 39, 40, and 21% (p = 0.033*); in the EOC group 49, 36, and 15% versus the control group 49, 33, and 18% (p = 0.82). According to these allelic distributions, DD carriers are 2.0 times more likely than individuals carrying the ID or II genotypes to develop EC; therefore, the DD genotype seems to be protective against EC. In contrast, no association was observed between ACE (I/D) polymorphism with EOC. The ACE (I/D) polymorphism might play a role in the pathogenesis of EC and it should be considered when identifying genetic markers for EC.

Objective: To assess if the genotype of the glutathione S-transferase M1 (GSTM1) enzyme and its GSTM1 null polymorphism can influence the response to chemotherapeutic treatment of advanced ovarian cancer. Methods: Case-control study of 112 patients with advanced ovarian cancer submitted to chemotherapy during the period from January 1995 to December 2005. The tissue to study the GSTM1 genotype and its deletion came from surgical staging to treat ovarian cancer. The PCR product generates two distinct genotypes, characterized as positive and null. The response to chemotherapy was evaluated using the World Health Organization (WHO) criteria. Patients were classified as having: a) no response, b) a response. Results: The presence of GSTM1 or its GSTM1 null polymorphism did not influence the preoperative chemotherapy response. Among the patients who did respond, 88.9% presented with positive GSTM1 and 11.1% with null GSTM1. Among the patients that did not respond, 85.71% presented with positive GSTM1 and 14.29% with null GSTM1 (p = 0.825). GSTM1 and its GSTM1 null polymorphism had no influence on the postoperative response to chemotherapy. Among the patients who did respond, 80.65% presented with positive GSTM1 and 19.35% with null GSTM1. Among the patients who did not respond, 87.50% presented with positive GSTM1 and 12.5% with the null polymorphism (p = 0.553). Conclusion: No difference was observed in the response to treatment with chemotherapy in patients with advanced ovarian cancer, as to the GSTM1 genotype compared to its GSTM1 null polymorphism.