ABSTRACT
We analyzed association of potentially regulatory polymorphisms (rs590352, rs11542583, rs3829202, rs207258, and rs4796672) with breast cancer. A significant association was found between this disease and rs2072580T>A (p=0.001) located in the overlapping promoter regions of the SART3 and ISCU genes. In women with AA and AT genotypes, the risk of breast cancer is higher by 6.7 times (p=0.001) and 12 times (p=0.001), respectively, in comparison with TT genotype. Under a codominant model of inheritance (AT vs AA+TT), the risk of breast cancer was increased by 4.2 times (Ñ=0.001) for the AT genotype. Under a recessive model of inheritance (TT vs AA+TT), the risk of disease was 10-fold higher (Ñ=0.001) for the TT genotype. It has been demonstrated that the T>A substitution affects the binding properties of transcription factors CREB1 and REST.
Subject(s)
Antigens, Neoplasm/genetics , Breast Neoplasms/genetics , Iron-Sulfur Proteins/genetics , Polymorphism, Single Nucleotide , Promoter Regions, Genetic/genetics , RNA-Binding Proteins/genetics , Adult , Aged , Aged, 80 and over , Breast Neoplasms/epidemiology , Case-Control Studies , Female , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Middle Aged , Risk Factors , Russia/epidemiology , Young AdultABSTRACT
Biopsy material of patients with malignant and benign breast diseases was examined. HRG mRNA expression was detected in 70% of cases in biopsy material obtained from patients with nonspecific invasive carcinoma and in 66.7% of cases in biopsy material of patients with benign breast diseases. Immunohistochemical analysis revealed expression of collagen II, the beta-1 integrin, and E-cadherin-markers of epithelial-mesenchymal transition. The use of RT-qPCR combined with immunohistochemical study made it possible to identify atypical cells, which can be regarded as precancerous changes, in individual patients.
Subject(s)
Biomarkers, Tumor/biosynthesis , Breast Neoplasms/metabolism , Epithelial-Mesenchymal Transition , Gene Expression Regulation, Neoplastic , Neoplasm Proteins/biosynthesis , Proteins/metabolism , Adolescent , Adult , Aged , Antigens, CD/biosynthesis , Antigens, CD/genetics , Biomarkers, Tumor/genetics , Breast Neoplasms/genetics , Breast Neoplasms/pathology , Cadherins/biosynthesis , Cadherins/genetics , Female , Humans , Middle Aged , Neoplasm Proteins/genetics , Proteins/geneticsABSTRACT
The content of mRNA of the histidine-rich glycoprotein (HRG), a potential marker of malignant neoplasia, which can be used in differential diagnosis of breast tumors, was determined in 110 breast tumor biopsy samples. The presence of HRG mRNA did not depend on the cancer type, on the preoperative treatment or its absence, as well as on the tumor progression stage and the presence of metastases.
Subject(s)
Breast Neoplasms/genetics , Proteins/genetics , Adult , Aged , Aged, 80 and over , Breast Neoplasms/pathology , Female , Humans , Middle Aged , Neoplasm Metastasis , RNA, Messenger/genetics , RNA, Messenger/metabolismABSTRACT
Opisthorchiasis is one of the significant naturofocal diseases in Russia. The diagnosis of opisthorchiasis may mask some diseases, such as opisthorchiasis, metorchiasis, and clonorchiasis - biohelminthoses that are induced by various representatives of the family Opisthorchiidae-Opisthorchis felineus/O.viverrini, Metorchis bilis, and Clonorchis sinensis, respectively. Coproovoscopy and serologic methods fail to accurately define the species-specific affiliation; in this connection the identification of opisthorchids, by using DNA diagnostic techniques, becomes urgent. The present paper gives the results of development of DNA diagnosticum, which differentiates parasitic diseases induced by O. felineus and M. bills. The ribosomal RNA gene cluster fragment incorporating internal transcribed spacer 2 (ITS2) was used as a diagnostic marker. A system for diagnosing opisthorchiasis was developed as a multiplex polymerase chain analysis and tested on 37 patients infected with various species of opisthorchids.
