RAD51 genotype and triple-negative breast cancer (TNBC) risk in Polish women.

The most lethal damage for the cell among all damage is double-strand breaks (DSB) of DNA. DSB cause development of cancer diseases including the triple-negative molecular subtype of breast cancer. The aim of this work was to evaluate the single nucleotide polymorphism -135G>C (rs1801320) of the RAD51 gene encoding DNA repair proteins by homologous recombination (HR) in triple-negative breast cancer (TNBC).

Amplification of Her-2/neu oncogene in GERD - Barrett's metaplasia – dysplasia - adenocarcinoma sequence.

Background/aims: Esophageal adenocarcinoma (ADC) incidence has been increasing dramatically in the past 3 decades despite the surveillance programs in patients with Barrett’s esophagus (BE). Therefore, markers of early neoplastic progression are required to predict of cancer risk in BE patients. The aim of this study was to investigate the frequency of Her2/neu amplification in different stages during Barrett’s-related carcinogenesis.

Polymorphism of the DNA repair genes RAD51 and XRCC2 in smoking- and drinking-related laryngeal cancer in a Polish population.

Introduction: Cigarette smoke and alcohol can generate reactive oxygen species, which may induce DNA double-strand breaks (DSBs), the most serious DNA lesion. In humans, DSBs are repaired mainly by non-homologous end joining and homologous recombination repair (HRR). Several polymorphisms in the DNA repair gene have been extensively studied in the association with various human cancers.

Association between the c.*229C>T polymorphism of the topoisomerase IIβ binding protein 1 (TopBP1) gene and breast cancer.

Topoisomerase IIβ binding protein 1 (TopBP1) is involved in cell survival, DNA replication, DNA damage repair and cell cycle checkpoint control. The biological function of TopBP1 and its close relation with BRCA1 prompted us to investigate whether alterations in the TopBP1 gene can influence the risk of breast cancer. The aim of this study was to examine the association between five polymorphisms (rs185903567, rs116645643, rs115160714, rs116195487, and rs112843513) located in the 3'UTR region of the TopBP1 gene and breast cancer risk as well as allele-specific gene expression.

RAD51 gene polymorphisms and sporadic colorectal cancer risk in Poland.

Background: DNA repair processes play an important role in protection against carcinogenic factors. Mutations in DNA repair genes, which code proteins engaged in repair processes, may lead to carcinogenesis and among others also to colorectal cancer (CRC) development. The genetic variability in RAD51 may contribute to the appearance and progression of various cancers including CRC.

Metallothionein 2A genetic polymorphisms and risk of ductal breast cancer.

Metallothioneins (MTs) are a family of metal binding proteins that play an important role in cellular processes such as proliferation and apoptosis. Metallothionein 2A is the most expressed MT isoform in the breast cells. A number of studies have demonstrated increased MT2A expression in various human tumors, including breast cancer.

Single nucleotide polymorphism (SNP) Thr241Met in the XRCC3 gene and breast cancer risk in Polish women.

Background: Single nucleotide polymorphisms (SNPs) in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual's risk of cancer. The XRCC3 protein plays a critical role in Homologous Recombination Repair (HRR) accounting for repair of DNA double-strand breaks (DSB).

Aim: The aim of the present study was to evaluate associations between the risk of breast cancer and Thr241Met polymorphism in the XRCC3 gene.

Expression of TopBP1 in hereditary breast cancer.

TopBP1 protein displays structural as well as functional similarities to BRCA1 and is involved in DNA replication, DNA damage checkpoint response and transcriptional regulation. Aberrant expression of TopBP1 may lead to genomic instability and can have pathological consequences. In this study we aimed to investigate expression of TopBP1 gene at mRNA and protein level in hereditary breast cancer.

Single nucleotide polymorphisms of RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met homologous recombination repair genes and the risk of sporadic endometrial cancer in Polish women.

Background: The genes RAD51, XRCC2 and XRCC3 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 endometrial cancer.

Methods: The subject of investigation in the reported study was the distribution of genotypes and the prevalence of alleles of the RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphism in 230 cases of sporadic endometrial cancer; the polymorphisms were determined by polymerase chain reaction-restriction fragment-length polymorphism methods.

135G>C and 172G>T polymorphism in the 5' untranslated region of RAD51 and sporadic endometrial cancer risk in Polish women.

Background: Despite advanced diagnostic and therapeutic procedures, endometrial cancer (EC) is still responsible for high morbidity and mortality of women. The genetic variability in RAD51 may contribute to the appearance and progression of various cancers including EC.

Aim: We investigated the association of polymorphisms in the DNA repair genes RAD51 135G>C and 172G>T with endometrial cancer risk.

Role of cyclooxygenase-2 gene polymorphisms in pancreatic carcinogenesis.

Aim: To evaluate the clinical significance of -765G/C and -1195G/A cyclooxygenase-2 (COX-2) gene polymorphisms in patients with pancreatic cancer (PC).

Methods: The study included 201 patients: 85 with PC and 116 healthy controls. -765G/C and -1195G/A COX-2 gene polymorphisms were studied in DNA isolated from blood samples.

Single nucleotide polymorphism in DNA base excision repair genes XRCC1 and hOGG1 and the risk of endometrial carcinoma in the Polish population.

Background: Polymorphisms in the human oxoguanine glycosylase 1 ( hOGG1 ) and X-ray repair cross-complementing 1 ( XRCC1 ) genes have been extensively studied in the association with various human cancers such as endometrial cancer.

Material And Methods: The genotype analysis of hOGG1 Ser326Cys and XRCC1 Arg399Gln gene polymorphisms for 150 endometrial cancer patients and 150 controls of cancer-free subjects, in the Polish population, were performed using PCR-based restriction fragment length polymorphism (PCR-RFLP).

Results: Although there were no significant (p > 0.

Single nucleotide polymorphisms in the homologous recombination repair genes and breast cancer risk in Polish women.

Genetic polymorphisms in homologous recombination repair genes that can lead to protein haploinsufficiency are generally associated with increased cancer risk. The aim of the present study was to evaluate associations between the risk of breast cancer and single nucleotide polymorphisms in the genes, encoding three key proteins of the homologous recombination repair: RAD51 (the human homologue of the E. coli RecA protein), X-ray repair cross-complementing group (XRCC) 2 and XRCC3.

The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis.

Background: The main cause of chronic pancreatitis (CP) is excessive alcohol consumption. On the other hand, only 5-10% of heavy drinkers develop chronic pancreatitis. We have only limited information regarding the pathogenic mechanism by which alcohol leads to the disease.

XRCC1 and XRCC3 DNA repair gene polymorphisms in breast cancer women from the Lodz region of Poland.

Aim: Genetic polymorphism in XRCC1 and XRCC3 genes may influence DNA repair capacity and, in turn, confer predisposition to breast cancer.

Material And Methods: In the present work the distribution of genotypes and frequency of alleles of the Arg194Trp and Arg399Gln polymorphism of XRCC1 and Trp241 Met polymorphism in XRCC3 in breast cancer women were analysed. Blood samples were obtained from 150 women with breast cancer and controls (n = 106).

Expression of estrogen and progesterone receptor genes in endometrium, myometrium and vagina of postmenopausal women treated with estriol.

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.

[Polymorphism/loss of heterozygosity of APC gene in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence].

Unlabelled: The incidence of esophageal adenocarcinoma (ADC) has been increasing rapidly over the past few decades. Gastro-esopageal reflux disease (GERD), Barrett's esophagus (BE) and Barrett-associated dysplasia are a risk factor for esophageal cancer, but endoscopic surveillance have only a limited influence on cancer mortality. There is a great need to find molecular biomarkers predicting increased progression risk in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence to improve risk assessment and stratification of patients to surveillance program.

[The analysis of estrogen receptor alpha (ER-alpha) gene Pvull and Xbal polymorphisms in postmenopausal women with breast cancer].

Unlabelled: Estrogens play a crucial role in the pathogenesis and progression of breast and endometrial cancer. The gene ER-alpha is polymorphic and gene variability could contribute to the level of protein biosynthesis. In the present work the distribution of genotypes and frequency of alleles of the Pvull polymorphism and Xbal polymorphism of ER-alpha gene in subjects with breast cancer were investigated.

Clinical significance of interleukin-6 (IL-6) gene polymorphism and IL-6 serum level in pancreatic adenocarcinoma and chronic pancreatitis.

The aim of our study was to assess the clinical significance of -174G/C Il-6 gene polymorphism and Il-6 serum level in patients with pancreatic adenocarcinoma (PA) and chronic pancreatitis (CP). The study included 41 with pancreatic adenocarcinoma, 56 with chronic pancreatitis, and 50 healthy volunteers, hospitalized between 2003 and 2006. Il-6 serum levels were measured with an enzyme-linked immunoassay and Il-6 gene polymorphism was studied in DNA isolated from peripheral blood.

Loss of heterozygosity in the RAD51 and BRCA2 regions in breast cancer.

Background: Loss of heterozygosity (LOH) in the 15q14-21 and 13q12-13 regions can contribute to the inactivation of RAD51 and BRCA2 genes implicated in the pathogenesis of breast cancer. We investigated allelic losses in microsatellites in the RAD51 and BRCA2 regions, and their association with clinicopathological parameters in breast cancer.

Methods: The LOH analysis was performed by amplifying DNA by PCR, using D15S118, D15S214, D15S1006 polymorphic markers in the 15q14-21 region and D13S260, D13S290 polymorphic markers in the 13q12-13 region in 36 sporadic breast cancer cases.

XPD Lys751Gln polymorphism analysis in women with sporadic breast cancer.

Common polymorphism in DNA repair genes may alter protein function and an individual's capacity to repair damaged DNA; deficits in repair capacity may lead to genetic instability and carcinogenesis. In present work we investigated the association between XPD Lys751Gln polymorphism and breast cancer progression. The polymorphism was analysed in breast cancer patients (n = 92) in blood.

Dinucleotide repeat polymorphisms of RAD51, BRCA1, BRCA2 gene regions in breast cancer.

Recent studies suggest that genetic polymorphisms of the DNA repair genes have been implicated in breast cancer risk. BRCA1 and BRCA2, two breast cancer susceptibility genes, are essential to maintain chromosomal integrity. This is mediated via regulation of RAD51 during homologous recombination.

Ser326Cys polymorphism in DNA repair genes hOGG1 in breast cancer women.

Reduced DNA repair capacity can render a high risk of developing many types of cancer; including breast cancer. Polymorphisms in DNA repair genes may contribute the genetic instability and carcinogenesis. In the present work the distribution of genotypes and frequency of alleles of the Ser326Cys polymorphism of hOGG1 gene in breast cancer women were analysed.