An investigation of the relationship between TMPRSS6 gene expression, genetic variants and clinical findings in breast cancer.

Breast cancer is one of the most common types of cancer among women worldwide. The TMPRSS6 (Transmembrane Serine Protease 6) gene encodes matriptase-2, which plays an important role in iron hemostasis as the hepcidin regulator and may play a role in breast cancer susceptibility. In this study, we examined the expression levels of the TMPRSS6 gene in healthy tissues and tumor tissues of breast cancer patients; and the relationship between these levels and pathological findings.

DNA repair gene OGG1 polymorphism and its relation with oxidative DNA damage in patients with Alzheimer's disease.

There is considerable evidence that oxidative DNA damage is increased, DNA repair capacity is decreased in patients with Alzheimer's disease. Base excision repair is the major pathway in removal of oxidative DNA damage. 8-oxo-deoxyguanosine DNA glycosylase 1 (OGG1) is the enzyme which is involved in the first step of this repair process.

The role of TMPRSS6 gene variants in iron-related hematological parameters in Turkish patients with iron deficiency anemia.

TMPRSS6 gene mutations can result in iron deficiency anemia (IDA) and cause an increased iron-regulatory hormone, hepcidin, levels. TMPRSS6 encodes a serine protease, matriptase-2, which functions as negative regulatory protein of hepcidin transcription. Thus, TMPRSS6 variations might be risk factors for IDA.

DNA repair and apoptosis: Roles in radiotherapy-related acute reactions in breast cancer patients.

Normal tissue reactions are therapy limiting factor for the effectiveness of the radiotherapy in cancer patients. DNA repair and apoptosis are estimated to be critical players of adverse effects in response to radiotherapy. Our aim was to define the association of DNA repair (ERCC1 and XPC) and apoptotic (BCL2, CASP3 and NFKB1) gene expression, DNA damage levels, apoptosis changes and DNA repair gene variations with the risk of acute side effects in breast cancer patients.

Toll-Like Receptors 2 and 4 Polymorphisms in Age-Related Macular Degeneration.

Purpose: Age-related macular degeneration (AMD) is a complex disorder with multifactorial etiology, caused by a combination of genetic and environmental factors. Innate immunity appears to play a key role in the pathogenesis of AMD. The purpose of this study was to determine whether common variation in the human toll-like receptors (TLRs) 2 and 4 alters the risk of AMD.