Search

Background: Endometrial cancer is one of the most common malignant neoplasms which appear in the uterine body. X-ray repair cross-complementing 1 (XRCC1) protein can be involved in the repair of DNA lesions, which are known to contribute to endometrial cancer.Material and methods: The genotype analysis of XRCC1 Arg399Gln gene polymorphisms for 456 endometrial cancer patients and 300 controls of cancer-free subjects in the Polish population was performed using PCR-based restriction fragment length polymorphism (PCR-RFLP).Results: An association was found between endometrial cancer occurrence and the Gln/Gln genotype of the Arg399Gln polymorphism (odds ratio 2.22; 95% confidence interval 1.51-3.27, p < 0.0001). The Gln/Gln genotype of XRCC1 increased the risk of type I endometrial cancer occurrence (OR = 2.13, 95% CI = 2.02-2.75, p < 0.012). No statistically significant association was found between gene polymorphisms and endometrial cancer risk factors such as BMI, HRT, uterine bleeding, diabetes and hypertension.Conclusion: The results support the hypothesis that the Arg399Gln polymorphism of the XRCC1 gene may be associated with the development of sporadic endometrial cancer in Polish women.

Background: Single nucleotide polymorphisms in DNA base excision repair (BER) system such as: hOGG1and XRCC1 genes have been extensively studied in the association with various cancers. Material and methods: In the present study hOGG1 Ser326Cys and XRCC1 Arg399Gln gene polymorphismsin endometrial cancer patients and controls were investigated. Results: There were no significant (p > 0.05) differences in the frequencies of genotypes or alleles of hOGG1genes between endometrial cancer women and controls. However, the frequency of the XRCC1 399Gln allelewas significantly greater in endometrial cancer subjects as compared with controls (p = 0.035) [OR 1.25 (95% CI1.02 to 1.55). The distributions of genotypes and alleles of the hOGG1 and XRCC1 genes were not significantlyassociated with the different grades of endometrial cancer (p > 0.05). Conclusion: This study suggested that XRCC1 Arg399Gln polymorphism may play an important role in endometrialcancer development in the Polish population.

Aim: Breast cancer is one of the major killers worldwide. Aberrant double-stranded break (DSB) repair leads to genomic instability, which is a hallmark of malignant cells. Double-stranded breaks are repaired by two pathways: homologous recombination (HR) and nonhomologous DNA end joining (NHEJ). It is not known whether these repair pathways are affected in sporadic breast tumours. Material and methods: In the present work the distribution of genotypes and frequency of alleles of the Ku70 gene, A46922G polymorphism and Ligase IV, A6008G (Ile591Val) polymorphism in breast cancer women were investigated. The genetic polymorphisms analysis was performed using a PCR-RFLP method in 135 sporadic breast cancer cases. Results: The distribution of the genotypes of the A46922G polymorphism of the Ku70 gene in patients differed significantly (p < 0.05) from those predicted by the Hardy-Weinberg equilibrium. There were significant differences in the frequencies of alleles between the breast cancer subjects and controls (p < 0.05). However, the distribution of the genotypes of the A6008G polymorphism of Ligase IV in both control and patients did not differ significantly (p > 0.05) from those predicted by the Hardy-Weinberg distribution. Conclusion: The results support the hypothesis that the A46922G polymorphism of the Ku70 gene may be associated with the incidence of breast cancer in postmenopausal women from the Łódź region of Poland.

CONTEXT AND OBJECTIVE: Estriol is an estrogen with considerably weaker stimulatory effects on endometrial proliferation than estradiol. A study was conducted to determine the level of estrogen receptors (ERs) and progesterone receptors (PRs) in women who received 14-day vaginal estriol therapy, compared with those who did not receive this therapy. ER and PR gene expression was analyzed in the endometrium, myometrium and vagina of postmenopausal women treated with estriol. DESIGN AND SETTING: Analytical cross-sectional study, at the Research Institute of the Polish Mothers' Memorial Hospital, Lodz, Poland. METHODS: Twenty-seven postmenopausal women (57-74 years of age) were included in the study. All of them were waiting for per vaginam hysterectomy or plastic surgery on the vagina and perineum because of uterine prolapse. ER and PR gene expression was determined by means of the technique of reverse transcription polymerase chain reaction (RT-PCR). RESULTS: In the estriol-treated patients, in comparison with the control group, a significant increase in ER gene expression was observed in the endometrium and vagina, while enhanced PR gene expression was found in the endometrium. However, under histological examination of the endometrium, estrogen stimulation of low and medium degree was diagnosed for 21.4% and 14.3% of the estriol-treated women, respectively. CONCLUSION: The results obtained suggest that the women who received 14 days of treatment with vaginal estriol had higher ER and PR mRNA levels. No difference between these groups regarding endometrial proliferation was observed.

This study was carried out to evaluate the loss of heterozygosity (LOH) and microsatellite instability (MSI) in breast cancer, in the 12p13.3 and 1p32 chromosomal regions where RAD52 and RAD54 genes are localized. Polymorphic markers D12S98, D12S1698 for RAD52 and D1S209, D1S411 for RAD54 were used. Relationships between LOH and clinicopathological parameters, i.e. tumor type and grade, patient's age, steroid receptors status and lymph node and distal metastases were assessed. For alleles frequency estimation 100 primary breast cancers were tested. DNA isolated from paraffin-embedded tissues and their matched blood samples were analyzed for PCR-based LOH and MSI by fluorescence-based DNA sequencing technology. In analyzed cases LOH was found in 14% and 11% of informative cases for D12S98 and D12S1698 markers, respectively and in 18% and 17% of informative cases for D1S209 and D1S411 markers, respectively. The highest frequency of MSI was identified at loci D12S98 (10%) and D1S209 (11%). Significant correlations between RAD52 and RAD54 regions with concomitant LOH and histological type and progesterone receptor status were observed. In the case of RAD54 further correlations with respect to tumor grade and the presence of distal metastases were noticed.