Analysis of lncRNA sequences: FAM3D-AS1, LINC01230, LINC01315 and LINC01468 in endometrial cancer.

BACKGROUND: The analysis of long non-coding RNA (lncRNA) in endometrial cancer is a novel field of science. Although numerous lncRNA sequences have been identified until today, their correlation with endometrial cancer is still undetermined. The aim of this study was to analyze the expression of four lncRNA sequences: FAM3D-AS1, LINC01230, LINC01315 and LINC01468 and to investigate their significance in endometrial cancer. METHODS: LncRNA sequences were investigated in paraffin blocks (tumor tissue and non-malignant endometrial tissue in archival postoperative specimens) in endometrial cancer patients (Cases, n = 120) and in cancer-free controls (n = 80) using real-time PCR assay. RESULTS: This study revealed a lower expression of LINC01468 in endometrial cancer patients than in controls. Both LINC01468 and FAM3D-AS1 were positively correlated with Body Mass Index (BMI) in cancer-free controls. CONCLUSIONS: LncRNA LINC01468 may be a protective factor in development of endometrial cancer.

Association of Single Nucleotide Polymorphism LEP-R c.668A>G (p.Gln223Arg, rs1137101) of leptin receptor gene with endometrial cancer.

BACKGROUND: The aim of this study was to analyze the frequencies of genotypes and alleles of Single Nucleotide Polymorphism (SNP) LEP-R c.668A>G (p.Gln223Arg, rs1137101) of leptin receptor gene and to assess the influence this DNA marker has on endometrial cancer (EC) with respect to total body fat content. METHODS: The study comprised 120 patients treated for endometrial cancer and 90 controls treated for uterine fibroids. In total, 210 patients were included in this research. DNA was isolated from archival post-operative specimens. Polymerase Chain Reaction - Restriction Fragment Length Polymorphism was employed to analyze the SNP. RESULTS: In this paper we have demonstrated that heterozygous genotype AG of SNP LEP-R c.668A>G (p.Gln223Arg, rs1137101) is statistically less frequent in women with endometrial cancer (EC) than in controls: 33 versus 57%, respectively. Similarly, this heterozygous genotype is statistically significantly less frequent in obese (BMI > 30) women with EC than in lean controls (BMI < 25): 30 versus 63%, respectively. CONCLUSIONS: AG polymorphic variant of SNP LEP-R c.668A>G (p.Gln223Arg, rs1137101) in LEP-R may be considered a protective factor in the development of endometrial cancer.

Is Single Nucleotide Polymorphism ADIPOQ (NM_004797.4):c.214+62G>T (rs1501299) Associated With Uterine Leiomyomas? A Pilot Study.

Objective: Although polymorphisms of adiponectin gene (ADIPOQ) in obesity-related conditions have been the target of research efforts, little is known about this genetic marker in uterine leiomyomas. The aim of this pilot study was to analyze the frequencies of alleles and genotypes of Single Nucleotide Polymorphism ADIPOQ (NM_004797.4):c.214+62G>T (rs1501299) and to correlate it with the risk of uterine fibroids. Study Design: The Test Group comprised 90 women treated surgically for uterine leiomyomas in the Department of Operative Gynecology, Endoscopy and Gynecologic Oncology, Polish Mother's Memorial Hospital-Research Institute. 90 disease-free individuals were used as Controls. Patients within both groups were additionally stratified into lean, overweight and obese, according to Body Mass Index. Statistical analysis was performed between the two major groups and, furthermore, within the abovementioned subgroups. Results: The study revealed no statistically significant differences in the distribution of alleles and genotypes of SNP ADIPOQ (NM_004797.4):c.214+62G>T (rs1501299) between the two main groups. A weak correlation within distributions of alleles was observed between obese Test Patients and lean Controls. Conclusion: This pilot study has revealed no association between SNP ADIPOQ (NM_004797.4):c.214+62G>T (rs1501299) and uterine fibroids. Further studies on larger groups are warranted to elucidate whether this SNP may be correlated with uterine leiomyomas.

Stress and Anxiety Levels in Pregnant and Post-Partum Women during the COVID-19 Pandemic.

The aim of this study was to analyze stress and anxiety levels experienced by pregnant and post-partum women during the COVID-19 pandemic, as well as to indicate the social and medical factors that could contribute to stress and anxiety. A total of 210 patients were enrolled in the study. Two well-established test-tools were applied: State-Trait Anxiety Inventory (STAI) and Perceived Stress Scale (PSS-10). The study revealed that the levels of stress and anxiety experienced by the surveyed patients were moderate to high. We demonstrated that women with mental treatment history, those in the first trimester of pregnancy and the ones that are single or in an informal relationship tend to experience higher levels of psychological distress and anxiety. Such factors as age, education, parity, eventful obstetric history, comorbidities, and the number of hospital stays proved to be statistically insignificant in the analysis. Our findings could be used to identify patients at greater risk of experiencing adverse mental effects and to provide them with adequate psychological support. Further multi-center studies are warranted in order to draw final conclusions.

MiRNA-103/107 in Primary High-Grade Serous Ovarian Cancer and Its Clinical Significance.

High levels of miRNA-103/107 are associated with poor outcomes in the case of breast cancer patients. MiRNA-103/107-DICER axis may be one of the key regulators of cancer aggressiveness. MiRNA-103/107 expression levels have never been related to patients' clinicopathological data in epithelial ovarian cancer. We aimed to assess miRNA-103/107 expression levels in high grade serous ovarian cancer tissues. Expression levels of both miRNAs were related to the clinicopathological features and survival. We also evaluated expression levels of miRNA-103/107 and DICER in selected ovarian cancer cell lines (A2780, A2780cis, SK-OV-3, OVCAR3). We assessed the relative expression of miRNA-103/107 (quantitative reverse transcription-polymerase chain reaction) in fifty archival formalin-fixed paraffin-embedded tissue samples of primary high grade serous ovarian cancer. Then, miRNA-103/107 and DICER expression levels were evaluated in selected ovarian cancer cell lines. Additionally, DICER, N-/E-cadherin protein levels were assessed with the use of western blot. We identified miRNA-107 up-regulation in ovarian cancer in comparison to healthy tissues (p = 0.0005). In the case of miRNA-103, we did not observe statistically significant differences between cancerous and healthy tissues (p = 0.07). We did not find any correlations between miRNA-103/107 expression levels and clinicopathological features. Kaplan-Meier survival (disease-free and overall survival) analysis revealed that both miRNAs could not be considered as prognostic factors. SK-OV-3 cancer cell lines were characterized by high expression of miRNA-103/107, relatively low expression of DICER (western-blot), and relatively high N-cadherin levels in comparison to other ovarian cancer cell lines. Clinical and prognostic significance of miRNA-103/107 was not confirmed in our study.

Serum concentrations of CCL20/MIP-3alpha in women with endometriosis.

INTRODUCTION: Endometriosis is a chronic disease defined by the presence of uterine mucosa outside the uterine cavity. Abnormal levels of cytokines, growth factors, adhesion molecules and metalloproteinases have been found in patients with endometriosis. A review of the literature revealed no papers on CCL20 serum levels in women with endometriosis. MATERIAL AND METHODS: The study included 32 women who underwent laparoscopy in the Polish Mother's Memorial Hospital-Research Institute, Lodz, Poland. Patients were divided into 2 groups: the study and control group. The study group was divided into three subgroups according to endometriosis form. Twenty patients were included in the study group and 12 patients acted as controls. CCL20 concentrations value were determined using a quantitative sandwich ELISA kit (R&D Systems). Results were statistically analyzed by SPSS STATISTICS 24.0.0 software. A significance level of 0.05 was used. RESULTS: The mean serum level of CCL20 in the study group was 7.4 pg/ml. In controls the mean value was 10.95 pg/ml. The concentration of CCL20 was statistically significantly lower in the study group than in controls (p = 0.004). Within the study group the highest values were reported in patients with endometrial ovarian cysts (8.55 pg/ml), intermediate in the DIE subgroup (8.24 pg/ml) and the lowest in patients with peritoneal endometriosis (6.74 pg/ml). Differences between subgroups were not statistically significant (p = 0.385). CONCLUSIONS: Our study revealed statistically significantly decreased CCL20 serum levels in women with endometriosis. No significant differences of CCL20 serum levels between patients with different forms of endometriosis were observed.

Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland.

Single nucleotide polymorphisms (SNPs) may modify the risk of cancer. They may be then regarded as potential markers of carcinogenesis. The aim of this study was to analyze the frequency of genotypes and alleles of SNPs in DNA repair genes and to investigate the influence this genetic variation exerts on breast cancer in Polish females. The test group comprised 600 females with breast cancer and 600 healthy controls. Genomic DNA was isolated and the SNPs in DNA repair genes were determined by High-Resolution Melter (HRM) technique. Following polymorphisms were analysed: Arg399Gln (rs25487) of the XRCC1, Gly322Asp (rs4987188) of the hMSH2, Lys751Gln (rs13181) of the XPD, Arg188His (rs3218536) of the XRCC2, P871L (rs799917) of the BRCA1 and N372H (rs144848) of the BRCA2 gene. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele. Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917. The alleles XRCC1-Gln (OR 5.11; 95% CI 5.68-11.64, p < .0001), hMSH2-Asp (OR 4.66; 95% CI 3.90-5.56, p < .0001), XPD-Gln (OR 2.65; 95% CI 2.24-3.14, p < .0001) and BRCA1-L (OR 1.45; 95% CI 1.24-1.71, p < .0001) genes were strongly correlated with this malignancy. No correlation was found between the studied SNPs and tumor grading nor the lymph node status. Further research on larger groups is warranted to determine the influence of above-mentioned genetic variants on breast cancer risk.

Association of Single Nucleotide Polymorphism -2548 G/A (rs12112075) of leptin gene with endometrial cancer and uterine leiomyomas.

AIM: The aim of this study was to analyse the frequencies of genotypes and alleles of Single Nucleotide Polymorphism (SNP) -2548 G/A (rs12112075) of leptin gene (LEP) and an attempt to evaluate the effect this DNA marker has on endometrial cancer (EC) and uterine leiomyomas (UL). MATERIAL AND METHODS: The study comprised 120 patients treated for endometrial cancer and 90 patients treated for uterine leiomyomas. 90 disease-free individuals were used as controls. In total, 300 patients were investigated in this research. RESULTS: In this paper we have demonstrated that genotype AG of SNP -2548 G/A of LEP may reduce the risk of developing endometrial cancer, whereas allele A itself may be a risk factor of this malignancy. No association was found between the studied polymorphism and uterine leiomyomas. CONCLUSIONS: -2548 G/A SNP of LEP may play a significant role in the development of EC, however, uterine leiomyomas are not associated with this DNA marker.

New single nucleotide polymorphisms (SNPs) in homologous recombination repair genes detected by microarray analysis in Polish breast cancer patients.

Breast cancer is the most common cause of malignancy and mortality in women worldwide. This study aimed at localising homologous recombination repair (HR) genes and their chromosomal loci and correlating their nucleotide variants with susceptibility to breast cancer. In this study, authors analysed the association between single nucleotide polymorphisms (SNPs) in homologous recombination repair genes and the incidence of breast cancer in the population of Polish women. Blood samples from 94 breast cancer patients were analysed as test group. Individuals were recruited into the study at the Department of Oncological Surgery and Breast Diseases of the Institute of the Polish Mother's Memorial Hospital in Lodz, Poland. Healthy controls (n = 500) were obtained from the Biobank Laboratory, Department of Molecular Biophysics, University of Lodz. Then, DNA of breast cancer patients was compared with one of the disease-free women. The test was supported by microarray analysis. Statistically significant correlations were identified between breast cancer and 3 not described previously SNPs of homologous recombination repair genes BRCA1 and BRCA2: rs59004709, rs4986852 and rs1799950. Further studies on larger groups are warranted to support the hypothesis of correlation between the abovementioned genetic variants and breast cancer risk.

Association of R156R single nucleotide polymorphism of the ERCC2 gene with the susceptibility to ovarian cancer.

AIM: The reported study was designed to explore associations between the ERCC2- R156R gene single nucleotide polymorphism (SNP) and the risk of ovarian cancer. MATERIAL AND METHODS: The R156R (C to A, rs238406) polymorphism of ERCC2 gene was investigated by the PCR-RFLP technique in 400 patients with ovarian carcinoma and 400 age- and sex matched non-cancer controls. Blood samples were obtained from patients treated at the Department of Surgical Gynaecology and Gynaecologic Oncology, Institute of Polish Mothers Memorial Hospital between the years 2000 and 2015. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele. RESULTS: Genotype distribution of R156R polymorphism of ERCC2 gene was compared between the patients and controls with significant differences (p<0.05) between the two investigated groups. A possible association was observed between ovarian cancer and the presence of A/A genotype (OR 3.30 95% CI 2.26-4.82, p<0.0001). The variant A allele of ERCC2 increased the risk of ovarian cancer (OR 2.08 95 % CI 1.70-2.54, p<0.0001). A relationship was confirmed between ERCC2 R156R polymorphism and ovarian cancer progression, assessed by the degree of histological grades and FIGO staging (p<0.05). CONCLUSION: This is the first study, linking R156R polymorphism of ERCC2 gene with ovarian carcinoma incidence. In conclusion, ERCC2- R156R polymorphism may be connected with the susceptibility to ovarian cancer.

Association Between Single Nucleotide Polymorphism +276G > T (rs1501299) in ADIPOQ and Endometrial Cancer.

Current literature gives evidence of an indisputable role adiponectin plays in adipose tissue metabolism and obesity-related diseases. Moreover, latest research efforts focus on linking genetic markers of this adipocytokine's gene (ADIPOQ) with cancer. Aim of this study was to determine the genotype distribution of single nucleotide polymorphism +276G > T (rs1501299) in ADIPOQ and an attempt to identify the impact this polymorphism exerts on endometrial cancer risk in obese females. The test group comprised 90 women treated surgically for endometrial cancer between 2000 and 2012 in the Department of Surgical & Endoscopic Gynecology and Gynecologic Oncology, Polish Mothers' Memorial Hospital - Research Institute, Lodz, Poland. 90 individuals treated in the parallel period for uterine fibroids constituted the control group. Patients within both groups were stratified according to BMI into: lean, overweight and obese subjects. Statistical analysis was performed between two major groups and, furthermore, within the abovementioned subgroups. The analysis revealed that allele G of the investigated polymorphism in obese women with endometrial cancer is significantly more frequent, and allele T is significantly less frequent than in lean controls. However, no significant correlation was observed between the polymorphism and endometrial cancer in lean and overweight females. Single nucleotide polymorphism +276G > T (rs1501299) in ADIPOQ may be considered to be a risk factor of endometrial cancer. Further research on SNP in EC is warranted to obtain more conclusive outcomes.

Single nucleotide polymorphisms (SNPs) of hOGG1 and XRCC1 DNA repair genes and the risk of ovarian cancer in Polish women.

The aim of this study was to determine single nucleotide polymorphisms in hOGG1 (Ser326Cys (rs13181)) and XRCC1 (Arg194Trp (rs1799782)) genes, respectively, and to identify the correlation between them and the overall risk, grading and staging of ovarian cancer in Polish women. Our study comprised 720 patients diagnosed with ovarian cancer and 720 healthy controls. The genotype analysis of hOGG1 and XRCC1 polymorphisms was performed using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (PCR-RFLP). Odds ratios (OR) and 95 % confidence intervals (CI) for each genotype and allele were calculated. Results revealed an association between hOGG1 Ser326Cys polymorphism and the incidence of ovarian cancer. Variant Cys allele of hOGG1 increased the overall cancer risk (OR 2.89; 95 % CI 2.47-3.38; p < .0001). Moreover, ovarian cancer grading remained in a relationship with both analysed polymorphisms; G1 tumours presented increased frequencies of hOGG1 Cys/Cys homozygotes (OR 18.33; 95 % CI 9.38-35.81; p < .0001) and XRCC1 Trp/Trp homozygotes (OR 20.50; 95 % CI 10.17-41.32; p < .0001). Furthermore, G1 ovarian cancers displayed an overrepresentation of Cys and Trp allele. In conclusion, hOGG1 Ser326Cys and XRCC1 Arg194Trp polymorphisms may be regarded as risk factors of ovarian cancer.

Association between -41657C/T single nucleotide polymorphism of DNA repair gene XRCC2 and endometrial cancer risk in Polish women.

AIM OF THE STUDY: The XRCC2 gene plays a crucial role in double-strand DNA break repair by homologous recombination. Current literature provides clear evidence that XRCC2 polymorphisms may be associated with the development of certain types of cancer; however, still little is known about their association with endometrial cancer (EC). MATERIAL AND METHODS: The single nucleotide polymorphism (SNP) -41657C/T (rs718282) of the XRCC2 gene was investigated by PCR-RFLP in 304 patients with EC and in 200 age- and sex-matched non-cancer controls. RESULTS: The analysis revealed a relationship between XRCC2 -41657C/T polymorphism and the incidence of EC. Endometrial cancer patients showed overrepresentation of the T allele of the SNP. The T/T homozygous variant increased the cancer risk. There were no significant differences between the distribution of XRCC2 -41657C/T genotypes in the subgroups according to histological grade. CONCLUSIONS: This is the first study that links the SNP -41657C/T (rs718282) of the XRCC2 gene with EC in Polish women. The results support the hypothesis that this polymorphism may be positively correlated with the incidence of EC.