• Communications for Statistical Applications and Methods
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• v.13 no.1
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• pp.167-175
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• 2006

It has long been recognized that cancer is a genetic disease. To find this measures of genetic instability, stain cells with chromosome specific probes using chromosome in-situ hybridization technique is adopted. Even though in-situ hybridization technique is powerful, truncation of nuclei often results in under-representation of chromosome copies in slides due to the sectioning of tissue blocks. Because of this problem we suggest three different methods to analyze the cervical cancer data set. We observe that genetic instability is an increasing function of histology and our suggested model is the best in detecting genetic instability of tumorigenesis processes.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.19
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• pp.8027-8034
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• 2014

Genetic instability contributes to the development and progression of gastric cancer, one of the leading causes of cancer death worldwide. Microsatellite instability (MSI) has been hypothesized to be involved in carcinogenesis, althgough its mechanisms and exact roles in gastric cancer remain largely unknown. Our aim was to identify associated clinicopathological characteristics and prognostic value of MSI in gastric cancer and precancerous lesions including gastritis, metaplasia, dysplasia, and adenoma. Because mitochondrial DNA has a different genetic system from nuclear DNA, the results of both nuclear MSI and mitochondrial MSI in gastric cancer were reviewed. This review provides evidence that genetic instability of nuclear and mitochondrial DNAs contributes to early stages of gastric carcinogenesis and suggests possible roles in predicting prognosis.

• Journal of Genetic Medicine
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• v.13 no.1
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• pp.1-13
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• 2016

Although some mutations are beneficial and are the driving force behind evolution, it is important to maintain DNA integrity and stability because it contains genetic information. However, in the oxygen-rich environment we live in, the DNA molecule is under constant threat from endogenous or exogenous insults. DNA damage could trigger the DNA damage response (DDR), which involves DNA repair, the regulation of cell cycle checkpoints, and the induction of programmed cell death or senescence. Dysregulation of these physiological responses to DNA damage causes developmental defects, neurological defects, premature aging, infertility, immune system defects, and tumors in humans. Some human syndromes are characterized by unique neurological phenotypes including microcephaly, mental retardation, ataxia, neurodegeneration, and neuropathy, suggesting a direct link between genomic instability resulting from defective DDR and neuropathology. In this review, rare human genetic disorders related to abnormal DDR and damage repair with neural defects will be discussed.

• Genomics & Informatics
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• v.12 no.3
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• pp.98-104
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• 2014

Approximately 45% of the human genome is comprised of transposable elements (TEs). Results from the Human Genome Project have emphasized the biological importance of TEs. Many studies have revealed that TEs are not simply "junk" DNA, but rather, they play various roles in processes, including genome evolution, gene expression regulation, genetic instability, and cancer disposition. The effects of TE insertion in the genome varies from negligible to disease conditions. For the past two decades, many studies have shown that TEs are the causative factors of various genetic disorders and cancer. TEs are a subject of interest worldwide, not only in terms of their clinical aspects but also in basic research, such as evolutionary tracking. Although active TEs contribute to genetic instability and disease states, non-long terminal repeat transposons are well studied, and their roles in these processes have been confirmed. In this review, we will give an overview of the importance of TEs in studying genome evolution and genetic instability, and we suggest that further in-depth studies on the mechanisms related to these phenomena will be useful for both evolutionary tracking and clinical diagnostics.

• International Journal of Oral Biology
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• v.47 no.2
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• pp.17-24
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• 2022

Preserving intact genetic material and delivering it to the next generation are the most significant tasks of living organisms. The integrity of DNA sequences is under constant threat from endogenous and exogenous factors. The accumulation of damaged or incompletely-repaired DNA can cause serious problems in cells, including cell death or cancer development. Various DNA damage detection systems and repair mechanisms have evolved at the cellular level. Although the mechanisms of these responses have been extensively studied, the global RNA expression profiles associated with genomic instability are not well-known. To detect global gene expression changes under different DNA damage and hypoxic conditions, we performed RNA-seq after treating human cervical cancer cells with ionizing radiation (IR), hydroxyurea, mitomycin C (MMC), or 1% O₂ (hypoxia). Results showed that the expression of 184-1037 genes was altered by each stimulus. We found that the expression of 51 genes changed under IR, MMC, and hypoxia. These findings revealed damage-specific genes that varied differently according to each stimulus and common genes that are universally altered in genetic instability.

• Journal of the Korean Society for Precision Engineering
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• v.23 no.6 s.183
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• pp.136-142
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• 2006

Optimization of the aircraft panel assembly constructed by skin and stringers is investigated. For the design of panel assembly of the aircraft structure, it is necessary to determine the best shape of the stringer which accomplishes lowest weight under the condition of no instability. A panel assembly can fail in a variety of instability modes under compression. Overall modes of flexure or torsion can occur and these can interact in a combined flexural/torsion mode. Flexure and torsion can occur symmetrically or anti-symmetrically. Local instabilities can also occur. The local instabilities considered in this paper are buckling of the free and attached flanges, the stiffener web and the inter-rivet buckling. A program is developed to find out critical load for each instability mode at the specific stringer shape. Based on the developed program, optimization is performed to find optimum stringer shape. The developed instability analysis program is not adequate for sensitivity analysis, therefore RSM (Response Surface Method) is utilized instead to model weight and instability constraints. Since the problem has many local minimum, Genetic algorithm is utilized to find global optimum.

• Genomics & Informatics
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• v.12 no.4
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• pp.136-144
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• 2014

Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases. Recent experimental findings have shed light on the links between different genome architectures and CNV mutagenesis. In this review, we summarize various genomic features and discuss their contributions to CNV formation. Genomic repeats, including both low-copy and high-copy repeats, play important roles in CNV instability, which was initially known as DNA recombination events. Furthermore, it has been found that human genomic repeats can also induce DNA replication errors and consequently result in CNV mutations. Some recent studies showed that DNA replication timing, which reflects the high-order information of genomic organization, is involved in human CNV mutations. Our review highlights that genome architecture, from DNA sequence to high-order genomic organization, is an important molecular factor in CNV mutagenesis and human genomic instability.

• Korean Journal of Clinical Laboratory Science
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• v.46 no.2
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• pp.59-63
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• 2014

The death toll of Colorectal Carcinoma in Korea was 1,826 and 7,721 in the years 1992 and 2011, respectively. This rate of increase was shown to be more than 4.23 times higher than that of any other form of cancer. Therefore, Colorectal Carcinoma requires various diagnostic methods, and Microsatellite Instability (MSI) was applied as a new diagnostic tool. From this study with several microsatellite markers, only marker #13 was detected and observed D13S160 13% (4/30), D13S292 13% (4/30), D13S153 10% (3/30) in order. From the results of amplication with microsatellite marker, D13S292 37% (11/30), D13S153 33% (10/30), D13S160 33% (10/30) in order were shown. The appearance of a genetic mutation, which depends on the loci of Colorectal Carcinoma, was shown amplication from rectal cancer (3.77) which was higher than that of right Colorectal Carcinoma (2.08) (p<0.018). The genetic mutation with lymph node (4.13) appeared higher than normal (1.93) (p<0.001). There were no great differences in the genetic mutation dependent on disease, histological classification and increased group of serum CEA. Accordingly, it is suggested that the correct primers, which can evaluate MSI well from colorectal carcinoma, should be chosen and that MSI be considered a good prognosis and quality control tool.

• Journal of Chest Surgery
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• v.33 no.1
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• pp.60-67
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• 2000

Background: Microsatellites are short-tandem repeated uncleotide sequences present throughout the human genome. Alterations of microsatellites have been termed microsatellite instability(MI). It has been generally known that microsatellite instability detected in hereditary non-polyposis colorectal cancer (HNPCC) reflects genetic instability that is caused by impairments of DNA mismatch repair system regarding as a novel tumorigenic mechanism. A number of studies reported that MI occurred at varying frequencies in non-small cell lung carcinoma (NSCLC). However It has been unproven whether MI could be a useful market of genetic instability and have a clinical significance in NSCLC. Material and Method : We have examined whether MI can be observed in thirty NCSLC using polymerase chain reaction whether such alterations are associated with other molecular changes such as p53, K-ras and c-myc oncoproteins expression detected by immunohistochemical stain,. Result: MI(+) was observed in 16.6%(5/30) and MI(-) was 83.3% (25/30) Average age was 50$\pm$7.5 year-old in MI(+) group and 57$\pm$6.6 year-old in MI(-) group. Two year survival rate in MI(=) group (20% 1/5) was worse than MI(-) group (64% 16/25) with a statistic difference. (P=0.04) The positive rate of K-ras oncoprotein expression and simultaneous expression of 2 or 3 oncoproteins expression were higher in MI(+) group than MI(-) group with a statistic difference(P=0.05, P=0.01) Conclusion: From, these results the authors can conclude that MI is found in some NSCLC and it may be a novel tumorigenic mechanism in some NSCLC. We also conclude that MI could be used as another poor prognostic factor in NSCLS.

• Proceedings of the Zoological Society Korea Conference
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• 1995.10b
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• pp.313.2-313
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• 1995

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