The analysis of Survivin promoter (-31G/C) gene variation in oral squamous cell carcinoma risk and prognosis.

Background/aim: Oral squamous cell carcinoma (OSCC) is a malign tumor that associated with smoking and alcohol consumption, eating habits, environmental factors, and genetic susceptibility of the individuals. The Survivin gene, also known as BIRC5, plays important roles in the regulation of the cell cycle and apoptosis. The aim of the present study is to investigate Survivin -31G/C polymorphism in OSCC development and prognosis.

The Investigation of 7 Gene Variations in Colorectal Cancer Risk.

Background/aim: Mitogen-activated protein kinases (MAPKs) are important regulatory molecules, which have essential roles in physiology and pathology. In the present study, we examined the possible correlation between the MAPK7 gene and colorectal cancer risk in the Turkish population.

Materials And Methods: A total of 100 human DNA samples (50 colorectal cancer patients and 50 healthy individuals) were sequenced using next-generation sequencing to define the potential genetic variations in the MAPK7 gene.

Predicting the predisposition to colorectal cancer based on SNP profiles of immune phenotypes using supervised learning models.

This study explores the machine learning-based assessment of predisposition to colorectal cancer based on single nucleotide polymorphisms (SNP). Such a computational approach may be used as a risk indicator and an auxiliary diagnosis method that complements the traditional methods such as biopsy and CT scan. Moreover, it may be used to develop a low-cost screening test for the early detection of colorectal cancers to improve public health.

Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.

Maturity-onset diabetes of the young (MODY) is a highly heterogeneous group of monogenic and nonautoimmune diseases. Misdiagnosis of MODY is a widespread problem and about 5% of patients with type 2 diabetes mellitus and nearly 10% with type 1 diabetes mellitus may actually have MODY. Using next-generation DNA sequencing (NGS) to facilitate accurate diagnosis of MODY, this study investigated mutations in 13 MODY genes (, , , , , , , , , , , , and ).

Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young.

Diabetes is a common disorder with a heterogeneous clinical presentation and an enormous burden on health care worldwide. About 1-6% of patients with diabetes suffer from maturity-onset diabetes of the young (MODY), the most common form of monogenic diabetes with autosomal dominant inheritance. MODY is genetically and clinically heterogeneous and caused by genetic variations in pancreatic β-cell development and insulin secretion.

The COX2 genetic variants in oral squamous cell carcinoma in Turkish population.

Oral squamous cell carcinoma (OSCC) is a common type of cancer that genetic and environmental factors also lifestyle habits, infections play important roles in the pathogenesis of disease. Cyclooxygenase 2 (COX2) is the inducible isoform of enzyme which convert arachidonic acid to prostaglandins. It was known that alterations in COX2 gene functions contribute to the inflammation process thus induce cancer progression, including cell proliferation, apoptosis, adhesion, invasion and metastasis.

Intercellular Adhesion Molecule-1 Lys469Glu Polymorphism, Systemic Redox Homeostasis and Gestational Diabetes Mellitus in Pregnant Women.

Objectives: Intercellular adhesion molecule-1 (ICAM-1) plays an important role in endothelial function. Hyperglycemia-induced impaired redox status is 1 of the well-known pathophysiologic characteristics of gestational diabetes mellitus (GDM), and it plays a crucial role in the causes of disease. Our aim was to clarify any possible relationship between the ICAM-1 Lys469Glu polymorphism and systemic redox status in women with and without GDM.

Individual and Combined Effects of CTLA4-CD28 Variants and Oxidant-Antioxidant Status on the Development of Colorectal Cancer.

Background: Colorectal cancer (CRC) is the third most frequent cancer worldwide. Research has revealed the contributions of the immune system and anti-inflammatory pathways in the development of cancer. The balance between cluster of differentiation 28 (CD28) and cytotoxic T-lymphocyte-associated protein 4 (CTLA4) signaling is important for the regulation of immune responses.

Analysis of CASP8 D302H Gene Variants in Patients with Primary Brain Tumors.

Background: Alteration in cell-cycle control and apoptosis pathways play important roles in tumorigenesis. Caspase-8 (CASP8) is a member of the cysteine protease family, that is implicated in apoptosis regulation. The present study was designed to investigate the possible role of CASP8 D302H gene polymorphism in the tumor development.

Analyses of EGF A61G Gene Variation and Serum EGF Level on Gastric Cancer Susceptibility and Clinicopathological Parameters.

Background: Epidermal growth factor (EGF) induces various biological signaling pathways, including proliferation and differentiation and it is the natural ligand of the epidermal growth factor receptor (EGFR) which is a member of tyrosine kinase transmembrane receptor family. EGF and EGFR control important processes in carcinogenesis and several differences in this signaling pathway are very common in certain types of cancers. In present study, we examined EGF A61G gene polymorphism as a marker of risk and progression in gastric cancer.

Association of the Cylin D1 G870A polymorphism with laryngeal cancer: are they really related?

Background: Cylin D1(CCDN1) is an important regulator of the cell cycle whose alterations are thought to be involved in cancer development. There have been many studies indicating CCDN1 amplification or over- expression in a variety of cancer types. In addition to gene amplification, the G870A polymorphism may be related with altered CCDN1 activity, and therefore with cancer development.

Cyclin D1 gene G870A variants and primary brain tumors.

Alterations of cyclin D1, one of the main regulators of the cell cycle, are known to be involved in various cancers. The CCDN1 G870A polymorphism causes production of a truncated variant with a shorter half-life and thus thought to impact the regulatory effect of CCDN1. The aim of the present study was to contribute to existing results to help to determine the prognostic value of this specific gene variant and evaluate the role of CCDN1 G870A polymorphism in brain cancer susceptibility.

Do CDKN2 p16 540 C>G, CDKN2 p16 580 C>T, and MDM2 SNP309 T>G gene variants act on colorectal cancer development or progression?

CDNK2 p16 plays a pivotal role in G1/S transition by regulating the p53 pathway, which was regulated by a nuclear oncoprotein, mouse double minute 2 (MDM2). Overexpression of the MDM2 gene has been shown in a number of tumor types, its gene amplification is found to associate with accelerated tumor development and failure to treatment in both hereditary and sporadic cancers. Although genetic association studies have revealed the relationship between certain genetic polymorphisms and genes that play important roles in the development and progression of colorectal cancer (CRC), it is still unknown.

The vitamin D receptor (VDR) gene polymorphisms in Turkish brain cancer patients.

Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of glioma and meningioma.

Possible relation between the NOS3 gene GLU298ASP polymorphism and bladder cancer in Turkey.

Endothelial nitric oxide synthase (eNOS), encoded by the NOS3 gene, has been suggested to play an important role in uncontrolled cell growth in several cancer types. The objective of this study was to evaluate the role of the NOS3 Glu298Asp polymorphism in bladder cancer susceptibility in a Turkish population. We determined the genotypes of 66 bladder cancer cases and 88 healthy controls.

Association of vitamin D receptor gene polymorphisms with colon cancer.

Objective: In this study, we investigated the association of two vitamin D receptor (VDR) polymorphisms BsmI and TaqI with colon cancer in a Caucasian population.

Methods: The VDR gene polymorphisms BsmI and TaqI were detected by polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP)-genotyping assays by using endonucleases BsmI and TaqI, and an agarose gel electrophoresis technique in a series of 43 colon cancer patients and 42 healthy controls.

Results: Allele frequencies and genotype distributions were found to be similar in both cases and controls.

The role of vitamin D in children with recurrent tonsillopharyngitis.

Background: The exact etiology of recurrent tonsillopharyngitis in children is not clear. Recurrent tonsillitis in children has multifactorial etiology like most of the diseases in childhood. In this study, our aim was to determine the potential role of vitamin D in recurrent tonsillitis by measuring serum 25-OH vitamin D levels and determining the vitamin D receptor polymorphism among children with recurrent tonsillitis.

Investigation of a possible relationship between EPHX1 gene polymorphisms and colorectal cancer in Turkish society.

Metabolism of chemical carcinogens, including their activation and detoxification, plays a key role in carcinogenesis. Microsomal epoxide hydrolase (EPHX1) has an important role in the metabolism of polycyclic aromatic hydrocarbons and detoxification of procarcinogens. The aim of this study was to investigate the association between colorectal cancer (CRC) development and EPHX1 gene polymorphisms.

MCP-1 and CCR2 gene variants and the risk for osteoporosis and osteopenia.

Aim: In this study, we investigated whether monocyte chemotactic protein 1 (MCP-1) and CC chemokine receptor 2 (CCR2) gene polymorphisms account for an increased risk of osteoporosis or osteopenia.

Methods: Three hundred three postmenopausal women, 80 osteoporotic, 123 osteopenic, and 100 unrelated age-matched healthy controls, were included in the study. Genotyping of MCP-1 A2518G and CCR2 V64I gene polymorphisms were detected by PCR-RFLP.

The effects of NOS3 Glu298Asp variant on colorectal cancer risk and progression in Turkish population.

Endothelial nitric oxide synthase (eNOS), coded by the gene NOS3, may play an important role in uncontrollable cellular growth in several cancer types. Our study was performed to test the association between Glu298Asp polymorphisms in the NOS3 gene and colorectal cancer risk and progression. In this study, NOS3 Glu298Asp polymorphism was genotyped in 84 patients with colorectal cancer and 99 healthy subjects using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.

Genetic variants of SDF-1 and CXCR4 genes in endometrial carcinoma.

In this study, we aimed to investigate a possible association between the Stromal cell-derived factor-1 (SDF-1) and CXCR4 polymorphisms and the risk of developing endometrial carcinoma. SDF-1 3'A and CXCR4 gene polymorphisms was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism in 139 healthy individuals and 113 patients with endometrial carcinoma. In our study groups SDF-1 3'A AA genotype frequency was higher in patients that of controls and individuals who had AA genotype showed a 2.

Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.

Background: There is growing evidence describing DNA repair genes polymorphisms are related to increased cancer risk including colorectal cancer (CRC). The aim of this study was to investigate the associations between the APE1 Asp148Glu, hOGG1 Ser326Cys, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His polymorphisms and CRC risk in Turkish population.

Patients And Methods: Polymorphisms of APE1 Asp148Glu (rs3136820), hOGG1 Ser326Cys (rs1052133), XRCC1 Arg399Gln(rs25487), XRCC3 Thr241Met (rs861539), XPD Lys751Gln (rs13181), and XPG Asp1104His (rs17655) were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods in blood samples of 79 CRC patients at their initial staging and 247 healthy controls.

CCND1 and CDKN1B polymorphisms and risk of breast cancer.

Background And Objectives: Previous studies have shown alterations in the cell cycle regulatory proteins in breast carcinomas. However, the results of these studies remain controversial. Cyclin D1 (CCND1) and p27(KIP1) (CDKN1B) are two essential regulators of cell cycle progression.