In normal conditions growth and cell division processes in tissues and organs are precisely regulated. On the molecular level these processes demand coordination of protooncogenes, suppressor genes, mismatch repair system genes and apoptotic genes expression. Mutations presence leads to alteration or loss of their function. In the consequence of these lesions cumulation of DNA errors cumulation and loss of cellular proliferation control take place, what leads to genome instability and promotes selection of cells clone being able to hyper-proliferate. Mutations presence in mentioned above groups of genes in high percentage had been detecting in cells of neoplasms described in this review. According to clinical observations presence of mutations in these genes influenced on the clinical course and prognosis. The aim of this review was to focus on mutations found in protooncogenes, suppressor genes, mismatch repair system and apoptotic genes, which in development of some genetically determined neoplasms, some syndromes predisposing to neoplasm development and in some sporadic neoplasms in high percentage had been detected. The presence of mutations in mentioned above groups of genes as molecular neoplasias indicators' in clinical diagnostics had been taking into account.
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Int J Mol Sci
November 2024
Department of Biophysics of Environmental Pollution, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska Str. 141/143, 90-236 Lodz, Poland.
The aim of the present study was to investigate the concentration- and size-dependent effects of non-functionalized polystyrene nanoparticles (PS-NPs) of varying diameters (29 nm, 44 nm, and 72 nm) on specific epigenetic modifications and gene expression profiles related to carcinogenesis in human peripheral blood mononuclear cells (PBMCs) in vitro. This in vitro human-cell-based model is used to investigate the epigenetic effect of various environmental xenobiotics. PBMCs were exposed to PS-NPs at concentrations ranging from 0.
View Article and Find Full Text PDFActa Otolaryngol
December 2024
Department of Medical Genetics, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey.
Background: Cholesteatoma is a proliferative disease that affects the tympanic cavity and temporal bone. Despite many studies and various theories, the etiopathogenesis of cholesteatoma has not been fully elucidated. Features such as invasion, migration, uncontrolled proliferation, and lack of differentiation are observed in both cholesteatoma and neoplasia.
View Article and Find Full Text PDFCommun Biol
December 2024
Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
BMC Gastroenterol
December 2024
Human Genetics Unit, Indian Statistical Institute, 203, B. T. Road, Kolkata, 700108, India.
Background And Introduction: Two and half percent of the Indian population suffer from gallbladder cancer (GBC). The primary factors that lead GBC are associated with mutation of several protooncogenes such as EGFR, ERBB2, Myc, and CCND1 along with dysregulation of several tumor suppressor genes such as SMAD4 and CDKN2A. Bacterial infection caused by S.
View Article and Find Full Text PDFBiomedicines
October 2024
Endocrinology Research Centre, Dmitry Ulyanov Street, 11, 117292 Moscow, Russia.
Background/objectives: Cervical cancer (CC) remains a significant global health challenge, characterized by genetic heterogeneity and a complex molecular landscape, both of which contribute to its pathogenesis. This study aimed to investigate germline variants in proto-oncogenes and tumor suppressor genes in cervical cancer patients, with the objective of clarifying their potential role in disease development.
Methods: We utilized a custom next-generation sequencing (NGS) panel targeting 48 genes implicated in oncogenesis.
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