Results of extremity dosimetry based on the measurements at laboratory of individual and environmental dosimetry at IFJ PAN.

Laboratory of Individual and Environmental Dosimetry (LADIS) at the Institute of Nuclear Physics is the largest dosimetry service in Poland. Extremity ring dosimetry measurements are performed at LADIS laboratory for ˃20 years, with accredited procedure since 2002. According to the quality system based on PN-EN ISO/IEC 17025:2018-02 standard, Hp(0.07) personal dose equivalent is measured over the range of doses from 0.1 mSv to 1 Sv. Years of experience allow the laboratory to analyse the levels of doses received by workers in medical and industrial institutions cooperating with LADIS laboratory. Yearly, ˃30 000 of extremity measurements have been performed for about 1000 institutions in Poland on the quarterly basis. According to the internal classification, the radiation workers under radiation protection control have been divided into a few groups. The analysis indicated that most of the doses received by exposed workers were on the level of the natural radiation background, but some of them exceeded the dose limit. The results show that ˃60% of Hp(0.07) doses were below 0.1 mSv/quarter; however, some very high doses were also registered. The highest number of doses above 125 mSv was observed in nuclear medicine and interventional radiology. The percentage of overdoses was relatively small but looking at individual cases the risk of unexpected irradiation was noticeable. Therefore, constant monitoring is always necessary.

Analysis of Long Non-Coding RNA (lncRNA) UCA1, MALAT1, TC0101441, and H19 Expression in Endometriosis.

Endometriosis is a disease of complex etiology. Hormonal, immunological, and environmental factors are involved in its formation. In recent years, special attention has been paid to genetic mechanisms that can have a significant impact on the increased incidence of endometriosis. The study aimed to analyze the expression of four long non-coding RNA (lncRNA) genes, UCA1, MALAT1, TC0101441, and H19, in the context of the risk of developing endometriosis. The material for genetic testing for the expression of lncRNA genes were tissue slices embedded in paraffin blocks from patients with endometriosis (n = 100) and the control group (n = 100). Gene expression was determined by the RT-PCR technique. The expression of the H19 gene in endometriosis patients was statistically significantly lower than in the control group. A statistically significant association was found between H19 gene expression in relation to The Revised American Society for Reproductive Medicine classification of endometriosis (rASRM) in the group of patients with endometriosis. Research suggests that H19 expression plays an important role in the pathogenesis of endometriosis.

Postnatal inversion of the uterus - management in specific cases.

Inversion of the uterus is defined as the turning inside out of the fundus into the uterine cavity. According to the literature, uterine inversion occurs in 1/20,000 or even 1/1,584 deliveries. Mortality rates following acute uterine inversion were reported by some authors to have been as high as 80%. Therefore, it is very important to make an early diagnosis. The shorter the time between the moment of uterine inversion and its repositioning, the better the results of conservative treatment, and bigger chance of avoiding surgical management. The article presents two cases of patients hospitalised in 2010 - 2011 in the Gynaecologic and Obstetrics Department of the Regional Polyclinic Hospital in Kalisz, Central Poland, diagnosed with acute uterine inversion in accordance with the applicable classification. Surgical management was applied in one of the patients. The other patient was managed in a conservative manner. Both women were discharged from the hospital in a good general condition.

Acute Kidney Injury in Pregnant Patient With Pancreas-Kidney Transplant Caused by Abdominal Compartment Syndrome: A Case Presentation, Review of Literature, and Proposal of Diagnostic Approach.

RATIONALE: With increasing number of complex medical patients with renal transplant who get pregnant, clinicians need to be aware of abdominal compartment syndrome which may masquerade as acute renal allograft injury in pregnancy. PRESENTING CONCERNS OF THE PATIENT: A 34-year-old nulliparous Caucasian female with end-stage renal disease (ESRD) due to type 1 diabetes mellitus who received a simultaneous pancreas-kidney transplant (SPK) in 2006 and then after rejection of renal allograft another, kidney-only allograft from a donation after circulatory death became pregnant in May 2013 with dichorionic, diamniotic twins without reproductive technology, and during pregnancy, she developed two episodes of acute injury to the renal allograft. DIAGNOSES: End-stage renal disease secondary to type I diabetes, acute renal allograft injury, tacrolimus toxicity, abdominal pain. INTERVENTIONS INCLUDING PREVENTION AND LIFESTYLE: She received intravenous hydration, medications contributing to renal failure were held, and pain and nauseas were controlled appropriately. Abdominal compartment syndrome was managed by maintaining intravascular pressure and optimizing regional and systemic vascular perfusion by appropriate fluid balance, evacuating intraluminal contents by decompressing gastrointestinal system, and improving abdominal wall compliance by using appropriate analgesics, sedation, and patient positioning. OUTCOMES: With advancing pregnancy, the patient developed progressive abdominal pain, nausea, leg edema, and rising creatinine that were not responsive to ongoing therapies and required delivery via Cesarean section at 31 weeks of gestational age. LESSONS LEARNED: In the era of increasing number of pregnant renal transplant patients with multiple medical issues, we need organized approach to diagnosis of acute renal allograft injury in pregnancy and we need to consider abdominal compartment syndrome as one of the causes.

JUSTIFICATION: Le nombre croissant de grossesses chez les greffées d'un rein aux prises avec des problèmes de santé complexes oblige les cliniciens à connaître le syndrome du compartiment abdominal; un trouble qui, pendant la grossesse, peut contribuer à une insuffisance rénale aiguë du greffon. PRÉSENTATION DU CAS: Une femme nullipare de 34 ans d'origine caucasienne et atteinte d'insuffisance rénale terminale (IRT) consécutive à un diabète de type 1. La patiente avait subi une première greffe simultanée rein-pancréas en 2006 puis, pour cause de rejet, une deuxième transplantation d'un rein seulement, lequel provenait d'un donneur décédé d'un problème circulatoire. La patiente est tombée enceinte de jumeaux diachroniques et diamniotiques en mai 2013 sans procréation assistée. La grossesse a été ponctuée de deux épisodes d'insuffisance rénale aiguë du greffon. DIAGNOSTIC: IRT consécutive à un diabète de type 1, insuffisance rénale aiguë du greffon, toxicité du tacrolimus, douleurs abdominales. INTERVENTIONS PRÉVENTION ET HABITUDES DE VIE: La patiente a été réhydratée par intraveineuse, les douleurs abdominales et les nausées ont été soulagées, et les médicaments contribuant à l'insuffisance rénale ont été temporairement cessés. Le syndrome du compartiment abdominal a été traité en maintenant la pression intravasculaire et en optimisant la perfusion vasculaire locale et systémique par un équilibre hydrique approprié, en évacuant le contenu intraluminal par décompression du système gastro-intestinal, et en améliorant la compliance de la paroi abdominale par l'administration d'analgésiques, par la sédation et par le positionnement de la patiente. ISSUE: Avec la progression de la grossesse, les symptômes de douleurs abdominales, nausées, œdème aux membres inférieurs et augmentation de la créatinine ayant cessé de répondre aux traitements, la patiente a dû accoucher par césarienne à 31 semaines. ENSEIGNEMENTS TIRÉS: Le nombre croissant de femmes enceintes greffées d'un rein et atteintes de problèmes de santé complexes plaide pour une approche concertée dans le diagnostic de l'insuffisance aiguë du greffon pendant la grossesse. Le syndrome du compartiment abdominal doit être envisagé comme l'une des causes de l'insuffisance rénale aiguë en grossesse.

Cobas 4800 HPV detection in cervical samples of Polish women.

INTRODUCTION: Long-term infection with human papillomavirus (HPV) is the cause of cervical cancer and its precursor - cervical intraepithelial neoplasia (CIN). The presence of HPV infection can be presumed in more than 99% of cases of cervical cancer worldwide. The introduction of DNA testing for the presence of HPV has increased the effectiveness of screening programs for the detection of this cancer. This study aimed to analyze the prevalence of high risk HPV DNA (HR HPV) in females from Poland. MATERIAL AND METHODS: The study was performed on 280 cervical smear samples. In this work we used the Roche Cobas 4800 HPV test to detect the HR HPV in cervical smear samples. RESULTS: 56 patients (20%) proved to be positive regarding HPV-16 DNA and 40 patients (14.28%) regarding HPV-18 DNA. In overall assessment, in 94 patients (33.57%) we detected oncogenic HPV subtypes, other than the two mentioned above. In 90 patients (32.14%) no high risk HPV was detected. CONCLUSIONS: The Roche Cobas 4800 HPV test is a viable, effective, easy and quick tool in detecting high risk HPV DNA.

Polymorphism of DNA repair genes in breast cancer.

AIM: The aim of the study was to determine the relationship between single nucleotide polymorphisms (SNPs) of DNA repair genes and modulation of the risk of breast cancer. The following SNPs were analysed: XRCC1-Arg399Gln (rs25487), hMSH2-Gly322Asp (rs4987188), XRCC2-Arg188His (rs3218536), XPD- Lys751Gln (rs13181), RAD51--4719A/T (rs2619679) and RAD51--4601A/G (rs5030789). MATERIAL AND METHODS: The study included n = 600 patients: 300 with breast cancer and 300 healthy controls. The HRM (High-Resolution Melter) technique was applied for polymorphism analysis. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele. RESULTS: Statistically significant correlations were identified between four single nucleotide polymorphisms and the breast cancer risk: XRCC1-Arg399Gln, hMSH2-Gly322Asp, XPD- Lys751Gln and RAD51--4719A/T. Allele XRCC1-Gln (OR 6.37; 95% CI 4.86-8.35, p < .0001), hMSH2-Asp (OR 4.41; 95% CI 3.43-5.67, p < .0001), XPD -Gln (OR 2.56; 95% CI 2.02-3.25, p < .0001) and RAD51-T genes (OR 1.44; 95% CI 1.15-1.80, p = 0.002) strongly correlated with breast carcinoma. No relationship was observed between the studied polymorphisms and the cancer progression grade according to Scarf-Bloom-Richardson classification. CONCLUSIONS: The results implies that polymorphisms of DNA repair genes may be associated with breast cancer occurrence.

Polymorphism of DNA Repair Genes via Homologous Recombination (HR) in Ovarian Cancer.

Ovarian cancer is one of the most common types of cancer in women. The repair system via homologous recombination repairs double-strand breaks (DSB) of DNA, which are the most mortal for cell, out of all DNA damages. The genes, which encode the double-strand break repairing proteins, are highly polymorphic and, taking into account the significance of the repaired defects for cancer development, it seems important to learn the role of the polymorphisms in ovarian cancer development. The aim of the study was to determine the relationship between DNA repair genes via homologous recombination (HR) and modulation of the risk of ovarian cancer. The following polymorphisms were analysed: XRCC3-Thr241Met (rs861539), XRCC2--41657C/T (rs718282), XRCC2-Arg188His (rs3218536), BRCA1-Q356R (rs1799950) and RAD51-135 G/C (rs1801320). The study group included 600 patients with ovarian cancer and 600 healthy controls. The PCR-RFLP (PCR-based restriction fragment length polymorphism) technique was applied for polymorphism analysis. Allele XRCC3-241Met (OR 0.85, 95%CI 0.72-0.99, p < 0.045), XRCC2-41657 T (OR 1.67, 95% CI 1.42-1.96, p < .0001), BRCA1-356R (OR 1.61; % CI 1.37-1.90, p < .0001) and RAD51-135C (OR 5.16; 95% CI 4.29-6.20, p < .0001) strongly correlated with the neoplastic disease. No relationship was observed between the studied polymorphisms and the cancer progression stage according to FIGO classification. The results indicate that polymorphisms of DNA repair genes via homologous recombination may be associated with the incidence of ovarian cancer. Further research on larger groups is warranted to determine the influence of above-mentioned genetic variants on ovarian cancer risk.

Studies of Correlations Between Single Nucleotide Polymorphisms of DNA Repair Genes and Endometrial Cancer in Polish Women.

AIM: The goals of this study included an analysis of the incidence of single nucleotide polymorphisms (SNPs) genotypes and alleles in DNA repair genes and evaluation of the effects by which this genetic variability may influence the risk for endometrial cancer. MATERIALS AND METHODS: The study group included 610 women with endometrial cancer and was compared with a quantitatively matched control group of 610 women without any diagnosed malignancy. The following polymorphisms were analyzed: X-Ray repair cross complementing 1 (XRCC1)-Arg399Gln (rs25487); XRCC2-Arg188His (rs3218536); XRCC3-Thr241Met (rs861539); ERCC excision repair 2, TFIIH core complex helicase subunit (ERCC2)-Lys751Gln (rs13181); and 8-oxoguanine DNA glycosylase (OGG1)-Ser326Cys (rs13181). RESULTS: Allele XRCC2-188His [odds ratio (OR)=5.24, 95% confidence interval (CI)=4.36-6.29; p<0.0001], hOGG1-326Cys (OR=1.60, 95% CI=1.36-1.88; p<0.0001) and ERCC2-751Gln (OR=1.67, 95% CI=1.42-1.96; p<0.0001) strongly correlated with neoplastic disease. CONCLUSION: The evaluated SNPs may be approached as a group of new risk factors for the development of this cancer type.

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 polymorphisms (SNPs) of XRCC2 and XRCC3 homologous recombination repair genes and ovarian cancer in Polish women.

The variability, perceived in DNA repair genes, may be of clinical importance for evaluation of the risk of occurrence of a given type of cancer, its prophylactics and therapy. The aim of the present work was to evaluate associations between the risk of ovarian cancer and polymorphisms in the genes, encoding for two key proteins of homologous recombination: XRCC2 Arg188His (c. 563 G>A; rs3218536) and XRCC3 Thr241Met (c. 722 C>T; rs861539). The study consisted of 700 patients with ovarian cancer and 700 healthy subjects. Analysis of the gene polymorphisms was performed using PCR-RFLP (restriction length fragment polymorphism). We found a statistically significant increase of the 188His allele frequency (OR=4.01; 95% CI=3.40-4.72; p<.0001) of XRCC2 in ovarian cancer compared to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the XRCC3 Thr241Met polymorphism between patient and control groups. Association of these genetic polymorphisms with histological grading showed increased XRCC2 188Arg/His (OR=33.0; 95% CI=14.51-75.05; p<.0001) and 188His/His genotypes (OR=9.37; 95% CI=4.79-18.32; p<.0001) and XRCC3 241Thr/Met (OR=24.28; 95% CI=12.38-47.61; p<.0001) and 241Met/Met genotype frequencies (OR=17.00; 95% CI=8.42-34.28; p<.0001) in grading 1 (G1) as well as 188His (OR=2.78; 95% CI=2.11-3.69; p<.0001) and 241Met allele overrepresentation (OR=2.59; 95% CI=2.08-3.22; p<.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase in XRCC2 188His/His homozygote and 188Arg/His heterozygote frequencies in staging I (SI) and XRCC3 Thr/Met heterozygote frequencies in SI was observed. The obtained results indicate that XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be positively associated with the incidence of ovarian carcinoma in the population of Polish women.

The R156R ERCC2 polymorphism as a risk factor of endometrial cancer.

Endometrial carcinoma (EC) is the most frequent malignant neoplasm of female genitals and the fourth most frequent malignant neoplasm in Polish women, after breast, colorectal and lung cancer. Despite intensive research, EC aetiology remains unknown. The variability, perceived in DNA repair genes, may be of clinical importance for evaluation of the risk of occurrence of a given type of cancer, its prophylactics and therapy. The aim of the study was to determine the relationship between gene polymorphism R156R (C to A, rs238406) of ERCC2 gene and modulation of the risk of endometrial cancer in Poland. Our research included 1360 patients with EC and 1320 healthy controls. The genotype analysis of ERCC2 gene polymorphism was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). In the presented study, a relationship was identified between R156R polymorphism of the ERCC2 gene and the incidence of endometrial cancer. An association was observed between EC occurrence and the presence of A/A genotype (odds ratio (OR) 9.71, 95 % Cl 7.53-12.50, p < .0001). A tendency for an increased risk of endometrial cancer was detected with the occurrence of A allele of ERCC2 polymorphism (OR = 5.95, 95 % Cl 5.23-6.78, p < .0001). A relationship was confirmed between R156R polymorphism and endometrial cancer progression, assessed by histological grades. On the basis of these results, we conclude that ERCC2 gene polymorphism R156R may be associated with an increased risk of endometrial cancer.

An Association between Single Nucleotide Polymorphisms of Lys751Gln ERCC2 Gene and Ovarian Cancer in Polish Women.

Aim. The aim of this study was to evaluate the role of the Lys751Gln (rs13181) ERCC2 gene polymorphism in clinical parameters and the risk for development of ovarian cancer. Material and Methods. The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated. Results. The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37-7.43; p < 0.0001). Association of Lys751Gln polymorphism with histological grading showed increased ERCC2 Gln/Gln (OR = 6.96; 95% CI 3.41-14.21; p < 0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37-7.40; p < 0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase in ERCC2 Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed. Conclusion. On the basis of these results, we conclude that ERCC2 gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.

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.

Single Nucleotide Polymorphisms (SNPs) of RAD51-G172T and XRCC2-41657C/T Homologous Recombination Repair Genes and the Risk of Triple- Negative Breast Cancer in Polish Women.

Double strand DNA breaks are the most dangerous DNA damage which, if non-repaired or misrepaired, may result in genomic instability, cancer transformation or cell death. RAD51 and XRCC2 encode proteins that are important for the repair of double-strand DNA breaks by homologous recombination. Therefore, genetic variability in these genes may contribute to the occurrence and progression of triple-negative breast cancer. The polymorphisms of the XRCC2 gene -41657C/T (rs718282) and of the RAD51 gene, -172G/T (rs1801321), were investigated by PCR-RFLP in 70 patients with triple-negative breast cancer and 70 age- and sex matched non-cancer controls. The obtained results demonstrated a significant positive association between the RAD51 T/T genotype and TNBC, with an adjusted odds ratio (OR) of 4.94 (p = 0.001). The homozygous T/T genotype was found in 60 % of TNBC cases and in 14 % of the used controls. Variant 172 T allele of RAD51 increased cancer risk (OR = 2.81 (1.72-4.58), p < .0001). No significant associations were observed between -41657C/T genotype of XRCC2 and the incidence of TNBC. There were no significant differences between the distribution of XRCC2 -41657C/T genotypes in the subgroups assigned to histological grades. The obtained results indicate that the polymorphism of RAD51, but not of XRCC2 gene, may be positively associated with the incidence of triple-negative breast carcinoma in the population of Polish women.

Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women.

Triple-negative breast cancer (TNBC) is characterised by worse clinical outcome and poor prognosis. The alterations in the oncogenes and tumor suppressor genes as well as microsatellite instability (MSI) have been associated with breast cancer development. It is knowledge that the most common mechanism inducing MSI in many cancer is genomic rearrangements found in the hMSH2 (human MutS homolog 2) gene. In this report we genotyped two polymorphisms of hMSH2 DNA repair gene in 70 TNBC patients and 70 age-matched cancer-free women using RFLP-PCR. The following polymorphisms were studied: an A/G transition at 127 positions producing an Asn/Ser substitution at codon 127 (the Asn127Ser polymorphism, rs17217772) and a G/A transition at 1032 position resulting in a Gly/Asp change at codon 322 (the Gly322Asp polymorphism, rs4987188). We found an association between the hMSH2 Asp/Asp and Gly/Asp genotypes and TNBC occurence. Variant Asp allele of hMSH2 decreased cancer risk [odds ratio (OR) 0.11; 95 % confidence interval (CI) 0.05-0.21]. The risk of TNBC in the carriers of the Gly322Gly-Asn127Ser combined genotype was increased (OR 3.71; 95 % CI 1.36-10.10). However the risk of TNBC was not alter by polymorphism Asn127Ser of the hMSH2 gene. The Gly322Asp polymorphism of the hMSH2 gene may be linked with TNBC occurrence in Polish women.

Association between single nucleotide polymorphisms (SNPs) of XRCC2 and XRCC3 homologous recombination repair genes and triple-negative breast cancer in Polish women.

XRCC2 and XRCC3 genes involved in homologous recombination repair (HRR) of DNA and in the maintenance of the genome integrity play a crucial role in protecting against mutations that lead to cancer. The aim of the present work was to evaluate associations between the risk of triple-negative breast cancer (TNBC) and polymorphisms in the genes, encoding for two key proteins of HRR: XRCC2 Arg188His (c. 563 G>A; rs3218536, Genbank Accession Number NT 007914) and XRCC3 Thr241Met (c. 722 C>T; rs861539, Genbank Accession Number NT 026437). The polymorphisms of the XRCC2 and XRCC3 were investigated by PCR-RFLP in 70 patients with TNBC and 70 age- and sex-matched non-cancer controls. In the present work, a relationship was identified between XRCC2 Arg188His polymorphism and the incidence of triple-negative breast cancer. The 188His allele and 188His/His homozygous variant increased cancer risk. An association was confirmed between XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms and TNBC progression, assessed by the degree of lymph node metastases and histological grades. In conclusion, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as predictive factors of triple-negative breast cancer in female population.

Towards an optimization of stimulus parameters for brain-computer interfaces based on steady state visual evoked potentials.

Efforts to construct an effective brain-computer interface (BCI) system based on Steady State Visual Evoked Potentials (SSVEP) commonly focus on sophisticated mathematical methods for data analysis. The role of different stimulus features in evoking strong SSVEP is less often considered and the knowledge on the optimal stimulus properties is still fragmentary. The goal of this study was to provide insight into the influence of stimulus characteristics on the magnitude of SSVEP response. Five stimuli parameters were tested: size, distance, colour, shape, and presence of a fixation point in the middle of each flickering field. The stimuli were presented on four squares on LCD screen, with each square highlighted by LEDs flickering with different frequencies. Brighter colours and larger dimensions of flickering fields resulted in a significantly stronger SSVEP response. The distance between stimulation fields and the presence or absence of the fixation point had no significant effect on the response. Contrary to a popular belief, these results suggest that absence of the fixation point does not reduce the magnitude of SSVEP response. However, some parameters of the stimuli such as colour and the size of the flickering field play an important role in evoking SSVEP response, which indicates that stimuli rendering is an important factor in building effective SSVEP based BCI systems.

An association between the -41657 C/T polymorphism of X-ray repair cross-complementing 2 (XRCC2) gene and ovarian cancer.

X-ray repair cross-complementing group 2 (XRCC2) gene is important for the repair of double-strand DNA breaks (DSB) by homologous recombination (HR). XRCC2 polymorphisms may be associated with the development of certain types of cancers, but little is known about their association with ovarian carcinoma. XRCC2 -41657C/T (rs718282) polymorphisms were genotyped by the PCR-RFLP (restriction fragment length polymorphism) method in 608 patients with ovarian cancer and in 400 cancer-free women, who served as controls. In the present work, a relationship was identified between XRCC2 -41657C/T polymorphism and the incidence of ovarian cancer. An association was observed between ovarian carcinoma occurrence and the presence of T/T genotype [OR = 3.50 (2.46-4.97), p < 0.0001]. A tendency for an increased risk of ovarian cancer was detected with the occurrence of T allele of XRCC2 polymorphism. There were no significant differences between the distribution of XRCC2 -41657C/T genotypes in the subgroups assigned to histological grades. We suggest that the -41657C/T polymorphism of the XRCC2 gene may be risk factors for ovarian cancer development.

Association of polymorphisms in the 5' untranslated region of RAD51 gene with risk of endometrial cancer in the Polish population.

PURPOSE: Many of the studies have analyzed cell repair capabilities, following cancer development. The cellular reaction to DNA damaging agents can modulate the susceptibility to various tumors. This reaction is mainly determined by DNA repair efficacy which, in turn, may be influenced by the variability of DNA repair genes, expressed by their polymorphisms. METHODS: This report describes studies of the distribution of genotypes and the frequency of alleles of the G135C (rs1801320) and G172T (rs1801321) RAD51 polymorphism in 630 paraffin-embedded samples of tumor tissue from patients with endometrial cancer. DNA from 630 normal endometrial tissues served as control. RAD51 polymorphisms were determined by PCR-RFLP. RESULTS: In the present work, a relationship was identified between RAD51 G135C polymorphism and the incidence of endometrial cancer. Endometrial cancer patients had an overrepresentation of 135C allele. The 135C/C homozygous variant increased cancer risk. A tendency towards a decreased risk of endometrial cancer was observed with the occurrence of combined G135C-G172G genotype of RAD51 polymorphism. An association was confirmed between RAD51 G135C and G172T polymorphisms and endometrial cancer progression, assessed by the histological grades. CONCLUSIONS: The results support the hypothesis that RAD51 G135C and G172T polymorphisms may be associated with endometrial cancer occurrence and/or progression.