c.1260+1del Variant as a Significant Predictor of Early-Age Breast Cancer Development: Case Report Combined with Analysis.

According to the guidelines of the American Society of Clinical Oncology (ASCO) and the European Society of Medical Oncology (ESMO), the most significant genetic factor in the diagnosis and treatment of breast cancer is the mutation status of the and genes. Additional genes with a significant influence on cancer risk were selected for genetic panel screening. For these genes, the disease risk score was predicted to be greater than 20%.

The Effects of Genistein at Different Concentrations on Breast Cancer Cells and Dermal Fibroblasts.

This study aimed to evaluate the safety and potential use of soy isoflavones in the treatment of skin problems, difficult-to-heal wounds and postoperative scars in women after the oncological treatment of breast cancer. The effects of different concentrations of genistein as a representative of soy isoflavonoids on tumor cells and skin fibroblasts cultured in vitro were assessed. Genistein affects both healthy dermal fibroblasts and cancerous cells.

Gene Mutations, rs16754 Variant, and Overexpression as Prognostic Factors in Acute Myeloid Leukemia Patients.

(1) Background: The aim of our study was the complex assessment of WT1 variants and their expression in relation to chromosomal changes and molecular prognostic markers in acute myeloid leukemia (AML). It is the first multidimensional study in Polish AML patients; (2) Methods: Bone marrow aspirates of 90 AML patients were used for cell cultures (banding techniques and fluorescence in situ hybridization), and to isolate DNA (WT1 genotyping, array comparative genomic hybridization), and RNA (WT1 expression). Peripheral blood samples from 100 healthy blood donors were used to analyze WT1 rs16754; (3) Results: Allele frequency and distribution of WT1 variant rs16754 (A;G) did not differ significantly among AML patients and controls.

Inside the chronic lymphocytic leukemia cell: miRNA and chromosomal aberrations.

Alterations in microRNA (miRNA/miRs) expression are associated with the occurrence and course of human diseases, including chronic lymphocytic leukemia (CLL). Expression of miRNAs may vary among patients with CLL in different cytogenetic risk groups. The present study assessed the expression levels of the following miRNAs in 35 patients with CLL: hsa‑miR‑15a, ‑16‑1, ‑29a, ‑29c, ‑34a, ‑34b, ‑155, ‑181a, ‑181b, ‑221, ‑222 and ‑223.

The Relationship of and Variants with the Risk of Disease Development and Shortening of Overall Survival in Patients with Multiple Myeloma.

(1) Background: The aim of our study was to analyze the possible relationship of and gene variants with susceptibility and outcome of multiple myeloma (MM); (2) Methods: Genomic DNA samples from 110 newly-diagnosed MM patients and 100 healthy blood donors were analyzed by methods-PCR-RFLP (for 3435C > T, 6235T > C-m1), automated DNA sequencing (for 1236C > T, 2677G > T/A) and allele-specific PCR (for 4889A > G-m2); (3) Results: The genotypic frequencies of 4889A > G variant were not in Hardy-Weinberg equilibrium for MM patients. The presence of m1 and m2 alleles decreased the risk of MM-OR = 0.49 ( = 0.

HPLC-UV and GC-MS Methods for Determination of Chlorambucil and Valproic Acid in Plasma for Further Exploring a New Combined Therapy of Chronic Lymphocytic Leukemia.

High performance liquid chromatography with ultra-violet detection (HPLC-UV) and gas chromatography-mass spectrometry (GC-MS) methods were developed and validated for the determination of chlorambucil (CLB) and valproic acid (VPA) in plasma, as a part of experiments on their anticancer activity in chronic lymphocytic leukemia (CLL). CLB was extracted from 250 µL of plasma with methanol, using simple protein precipitation and filtration. Chromatography was carried out on a LiChrospher 100 RP-18 end-capped column using a mobile phase consisting of acetonitrile, water and formic acid, and detection at 258 nm.

Personality traits and polymorphisms of genes coding neurotransmitter receptors or transporters: review of single gene and genome-wide association studies.

Background: The most popular tool used for measuring personality traits is the Five-Factor Model (FFM). It includes neuroticism, extraversion, openness, agreeableness and conscientiousness. Many studies indicated the association of genes encoding neurotransmitter receptors/transporters with personality traits.

T6746C and P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis.

Unlabelled: . NOTCH pathway and TP53 protein are involved in the development of fibrosis and autoimmune disorders, respectively. The aim of this study was to evaluate the role of single nucleotide polymorphisms (SNPs) of and genes and serum anti-TP53 antibodies with the susceptibility, clinical subset of systemic sclerosis (SSc), and clinical profile of SSc patient, particularly with lung involvement and disease activity.

Anticonvulsant valproic acid and other short-chain fatty acids as novel anticancer therapeutics: Possibilities and challenges.

Results from numerous pre-clinical studies suggest that a well known anticonvulsant drug valproic acid (VPA) and other short-chain fatty acids (SCFAs) cause significant inhibition of cancer cell proliferation by modulating multiple signaling pathways. First of all, they act as histone deacetylase (HDAC) inhibitors (HDIs), being involved in the epigenetic regulation of gene expression. Afterward, VPA is shown to induce apoptosis and cell differentiation, as well as regulate Notch signaling.

The Association of , and α Polymorphisms With the Risk and Outcome in Multiple Myeloma.

Oxidative stress and systemic inflammation are closely linked with increased risk of cancer development. Tumor necrosis factor alpha (TNF-α) is one of the pro-inflammatory cytokines. Glutathione S-transferases (GSTs) are enzymes involved in oxidative stress handling.

Examination of clonal evolution in chronic lymphocytic leukemia.

Chronic lymphocytic leukemia (CLL) is one of the most frequent lymphoproliferative diseases. CLL is characterized by unusual heterogeneity, which probably reflects its biological and genetic lack of homogeneity. Clonal chromosome aberrations belong to the most important prognostic and predictive factors in CLL.

The Significance of NOTCH Pathway in the Development of Fibrosis in Systemic Sclerosis.

Systemic sclerosis (SSc) is an autoimmune disorder characterized by the fibrosis of skin, heart, lung, and kidney as well. Excessive activation of fibroblasts is associated with higher expression of Notch1 and/or Notch3 genes. The constitutive expression of NOTCH genes was described in epithelial cells: epidermal keratinocytes, hair follicle cells and sebaceous glands.

Insertion/Deletion Polymorphism (rs4646994) Is Associated With the Increased Risk of Multiple Myeloma.

The insertion (I allele) deletion (D allele) polymorphism of gene (rs4646994) may influence the etiopathogenesis of multiple myeloma (MM). gene is expressed in bone marrow cells and encodes angiotensin converting enzyme (ACE). It converts angiotensin I to active peptide angiotensin II, which stimulates proliferation of hematopoietic stem cells.

Distinct molecular subtypes of gastric cancer: from Laurén to molecular pathology.

In Western countries the majority of gastric cancers (GC) are usually diagnosed in advanced stages reporting a 5-year survival rate of only 26%. The Laurén classification of GC was most widely used in clinical practice since it reflects GC morphology, epidemiology, tumor biology, clinical management and outcome. Despite the initial promise of individualizing antitumor treatment, the management of GC still remains relatively broad and general.

ACTN3 Genotype in Professional Sport Climbers.

Ginszt, M, Michalak-Wojnowska, M, Gawda, P, Wojcierowska-Litwin, M, Korszeń-Pilecka, I, Kusztelak, M, Muda, R, Filip, AA, and Majcher, P. ACTN3 genotype in professional sport climbers. J Strength Cond Res 32(5): 1311-1315, 2018-The functional RR genotype of the alpha-actinin-3 (ACTN3) gene has been reported to be associated with elite sprint/power athlete status.

TP53 polymorphism in plasma cell myeloma.

Introduction: Significant and accessible predictive factors for bortezomib treatment in plasma cell myeloma (PCM) are still lacking. TP53 codon 72 polymorphism (P72R) results in proline (P) or arginine (R) at 72 amino acid position, which causes synthesis of proteins with distinct functions. The aims of our study were to: 1) analyze whether this polymorphism is associated with an increased risk of PCM; 2) study whether the P72R polymorphism affects overall survival (OS) among PCM patients; 3) assess the possible association of the P72R polymorphism with sensitivity to bortezomib in cell cultures derived from PCM patients.

Chromosome Preparation for Chronic Lymphoid Malignancies.

Conventional cytogenetics is invariably one of the most important methods used in diagnostics of chronic lymphoproliferations. It complements fluorescence in situ hybridization (FISH) and molecular analysis. Presence of particular chromosomal alterations in chronic lymphocytic leukemia enables patients' stratification into appropriate cytogenetic risk groups and influences treatment decisions.

Expression of circulating miRNAs associated with lymphocyte differentiation and activation in CLL-another piece in the puzzle.

Expression of microRNAs is altered in cancer. Circulating miRNA level assessed in body fluids commonly reflects their expression in tumor cells. In leukemias, however, both leukemic and nonleukemic cells compose circulating miRNA expression profile of peripheral blood.

The incidence of breast cancer in population of young women from Podkarpackie province in 2002-2011.

Introduction: Breast cancer (BC) in young women of Podkarpackie province accounts for approximately 11.0% of all diagnosed breast tumors.

Aim Of The Study: Aim of the study was to assess the trends in incidence of BC among women younger than 44 from Podkarpackie in the years 2002-2011.

Detection of chromosomal changes in chronic lymphocytic leukemia using classical cytogenetic methods and FISH: application of rich mitogen mixtures for lymphocyte cultures.

One of the research methods of prognostic value in chronic lymphocytic leukemia (CLL) is cytogenetic analysis. This method requires the presence of appropriate B-cell mitogens in cultures in order to obtain a high mitotic index. The aim of our research was to determine the most effective methods of in vitro B-cell stimulation to maximize the number of metaphases from peripheral blood cells of patients with CLL for classical cytogenetic examination, and then to correlate the results with those obtained using fluorescence in situ hybridization (FISH).

Examination of the FLT3 and NPM1 mutational status in patients with acute myeloid leukemia from southeastern Poland.

Introduction: Acute myeloid leukemia (AML) is a genetically heterogeneous disease at both the cytogenetic and molecular levels. In AML cells many chromosomal aberrations are observed, some of them being characteristic of a particular subtype of patients, and others being less significant. Besides chromosomal abnormalities, the leukemic cells can have a variety of mutations involving individual genes.

Significance of Polymorphisms and Expression of Enzyme-Encoding Genes Related to Glutathione in Hematopoietic Cancers and Solid Tumors.

Antioxidant compounds such as glutathione and its enzymes have become the focus of attention of medical sciences. Glutathione, a specific tripeptide, is involved in many intercellular processes. The glutathione concentration is determined by the number of GAG repeats in gamma-glutamylcysteine synthetase.

Steatocystoma multiplex with hair shaft abnormalities.

Steatocystoma multiplex (SM) is an unusual benign disorder of the pilosebaceous duct characterized by multiple cysts with little or no nail and hair involvement. We report a 30-year-old woman with multiple cystic nodules located on the neck, axillae and forearms as well as patchy scalp alopecia. Histopathological examination of the lesions was diagnostic of SM.

[Epidemiology, prevention and risk morbidity factors for lung cancer].

Lung cancer incidence kept increasing dynamically in male population until the late 90s and then there was a sudden drop in the cases and this tendency has been maintained up till now. What seems upsetting, however, is the fact that for female population there is a constant growth in the lung cancer morbidity. Needless to say, Poland still belongs to the countries with high lung cancer incidence and lung cancer mortality.