Identification of the c.829_832delAATA Deletion Variants in the Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.

Determination of the mutation status in patients with breast and/or ovarian cancer is commonly performed using various molecular techniques. The use of targeted PCR-based tests only may not be sufficient, as not all possible variants are investigated. In the present study, we used next-generation sequencing (NGS) techniques to identify novel pathogenic variants in and .

Do CTRC mutations affect the development of alcoholic chronic pancreatitis and its course among Poles: Preliminary study.

Background: Genetic mutations are one of the etiological factors that predispose people to develop chronic pancreatitis.

Objectives: The aim of our study was to examine the effect of p.Trp55*, p.

Expression of genes encoding extracellular matrix proteins: a macroarray study.

Endometrial cancer (EC) is one of the most common gynecological malignancies in Poland, with well-established risk factors. Genetic instability and molecular alterations responsible for endometrial carcinogenesis have been systematically investigated. The aim of the present study was to investigate, by means of cDNA macroarrays, the expression profiles of genes encoding extracellular matrix (ECM) proteins in ECs.

The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis.

Introduction:  Recent studies have shown the key role of genetic factors in the development of chronic pancreatitis.

Objectives:  The aim of the study was to establish whether the frequency of the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene differs between patients with alcoholic chronic pancreatitis, patients with nonalcoholic chronic pancreatitis, alcoholics without any digestive organ damage, and controls. We also sought to investigate whether the frequency of this mutation differs between women and men, and whether the mutation is associated with the age of patients at first diagnosis of chronic pancreatitis.

Polymorphisms of the 5-HT2A receptor gene and clinical response to olanzapine in paranoid schizophrenia.

Background: 5-HT2A receptor is strongly implicated in the mode of action of atypical antipsychotic drugs. The aim of the study was to investigate whether the 5-HT2A receptor gene's polymorphisms (His452Tyr and T102C) have an influence on the response to olanzapine in patients with schizophrenia.

Methods: We studied 99 Caucasian schizophrenia patients treated with olanzapine.

[Decreased osteonectin and fibronectin gene expression in endometrial cancer cancer as a prognostic marker].

Objectives: The aim of this study was to investigate, by means of cDNA macroarrays, the expression profile of genes coding the ECM proteins in endometrial cancer.

Material And Methods: Tissue specimens were collected during surgical procedures. 40 patients were operated due to endometrial cancer and 9 patients because of uterine myomas.

Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in alcohol liver cirrhosis and alcohol chronic pancreatitis among Polish individuals.

Objective: To investigate the effects of ADH and ALDH gene polymorphism on the development of alcoholism, alcohol liver cirrhosis and alcohol chronic pancreatitis among Polish individuals.

Material And Methods: We determined the allele and genotype of ADH2, ADH3 and ALDH2 in 198 subjects: 57 with alcohol cirrhosis, 44 with alcohol chronic pancreatitis and 43 "healthy alcoholics"; 54 healthy non-drinkers served as controls. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method on white cell DNA.

Apoptotic markers in various stages of amygdala kindled seizures in rats.

The aim of the study was to elucidate the relationship between various stages of amygdala kindling in rats and neuronal apoptosis. We used the unbiased method of RNase protection assay (RPA), measuring expression of several apoptosis-associated genes (for: caspase 1, caspase 2, caspase 3, FAS antigen, bax and bcl-x, bcl-2). The obtained results were also verified in situ in hippocampal slices, using the TUNEL method.

Genetic polymorphism of CYP2E1 and digestive tract alcohol damage among Polish individuals.

Background: Genetic polymorphism of enzymes involved in alcohol metabolism plays a relevant role in etiopathogenesis of alcohol disease. The aim of the present study was to find in the Polish population the CYP2E1 genotypes that are likely to be responsible for higher susceptibility to alcohol disease of the liver and chronic alcohol pancreatitis.

Methods: The CYP2E1 genotype and c1 and c2 alleles frequency were examined in 198 patients.

Estimation of prognostic value of Bcl-xL gene expression in non-small cell lung cancer.

The aim of our study was to estimate the expression of the Bcl-xL gene, a member of Bcl-2 family, in NSCLC patients. A total of 60 consecutive patients diagnosed with NSCLC that underwent chemotherapy prior to surgery were reviewed. Bcl-xL expression was assessed on paraffin sections by in situ hybridization (ISH) and immunohistochemistry (IMH).

Genetic polymorphism of alcohol dehydrogenase 3 in alcohol liver cirrhosis and in alcohol chronic pancreatitis.

Aim: To find the ADH3 genotypes in the Polish population likely to be responsible for higher susceptibility to alcohol disease of the liver and chronic alcohol pancreatitis.

Method: The ADH3 genotype and ADH3*1 and ADH3*2 alleles frequencies were examined in 198 patients. Genotyping of the ADH3 was performed using PCR-restriction fragment length polymorphism methods on a white cell DNA.

Analysis of most common CFTR mutations in patients affected by nasal polyps.

Nasal polyps, a chronic inflammatory disease occurring in the nose and para-nasal sinuses, result from several different causes, including cystic fibrosis (CF). Forty-four patients affected by nasal polyps were admitted to the Department of Otolaryngology, Lublin University School of Medicine, Lublin, Poland, and screened for the most-commonly identified CFTR mutations [DeltaF508, G542X, N1303 K, 1717-1 (G to A), W1282X, G551D, R553X and DeltaI507] by applying the INNO-LIPA CF2 test strips. None of the patients had symptoms that allowed for the diagnosis of CF, including the negative sweat test.

Expression of p53 gene in stage IIIA non-small cell lung cancer in patients after neoadjuvant chemotherapy with Vepesid and Cisplatin.

Apoptosis (programmed cell death) plays a very important role in the development regulation, homeostasis maintenance as well as in the origin of many diseases, including neoplasms. This process is genetically regulated and reflected in characteristic morphological and biochemical changes taking place in cells. The process is considered to be of great significance in tumour originating and growth as well as in tumour cell response to chemotherapy.

Expression of p21 and bcl-2 proteins in paraffin-embedded preparations of non-small cell lung cancer in stage IIIA after Etoposide and Cisplatin induced chemotherapy.

Apoptosis plays an important role in cancer pathogenesis. Several oncogenes and antioncogenes regulate this process. Loss of their normal function leading to cell resistance to apoptosis seems to be a key factor of neoplasm development.

The preliminary estimation of bcl-2, bcl-X(L) and p53 genes expression in locally advanced non-small cell lung cancer.

Cell neoplastic transformation results from disturbances in expression of genes regulating its basic functions like cell cycle and apoptosis. Our paper presents preliminary estimation of expression of protooncogenes: bcl-2 and bcl-X(L) as well as of p53 suppressor gene in (NSCLC) non-small-cell lung cancer patients. The study comprised 16 NSCLC patients subjected to chemotherapy before operative procedure.

The activity of human telomerase in the cells of acute leukaemias.

Telomeres are the end fragments of chromosomes formed by a number of non-coding double-stranded TTAGGG repeats in vertebrates. During cell division the number of repeats decreases, leading to cell senescence or apoptosis. In immortal cells, including cancer cells, the telomere length is stable and maintained by, among other factors, telomerase.

Molecular diagnostics of promyelocytic leukaemia.

Acute promyelocytic leukaemia (APL) is characterised by proliferation of abnormal promyelocytes. The reciprocal translocation between the long arms of chromosomes 15 and 17, and the fusion between the retinoic acid receptor (RARa) gene, and PML gene, is unique to APL. Because of unsuccessful cytogenetic analysis of conventional G-banding technique (mitoses were not observed), we diagnosed three non-treatment patients with APL by following molecular methods: reverse transcription-polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH).

[Role and significance of DNA methylation].

DNA methylation is covalent addition of a methyl group to cytosine within the CpG dinucleotide. It has profound effects on the mammalian genome. These effects include transcriptional repression via inhibition of transcription factor binding, X chromosome inactivation, and imprinting.

Loss of heterozygosity of the retinoblastoma gene is correlated with the altered pRb expression in human endometrial cancer.

The retinoblastoma (Rb) gene was the first tumor suppressor gene to be discovered; however, data on the influence of Rb inactivation on endometrial carcinogenesis are scarce. We investigated 46 paired primary human endometrial carcinomas and normal tissues to assess the frequency of loss of heterozygosity (LOH) in Rb and 20 tumor pairs to detect the frequency of p53 LOH. Moreover, expression of the retinoblastoma protein (pRb) was assessed immunohistochemically.