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Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study
Anikó Bozsik,János Papp,Vince Kornél Grolmusz,Attila Patócs,Edit Oláh,Henriett Butz 대한암학회 2022 Cancer Research and Treatment Vol.54 No.4
Purpose While BRCA1/2 genes are commonly investigated, variants of unknown significance (VUS) and variants with potential splice effect are still being detected and they represent a substantial challenge in genetic counseling and therapy. Materials and Methods Out of genetically tested 3,568 hereditary breast and ovarian cancer probands five, functionally not investigated variants with potential splice-modifying effect were subjected to functional characterization. Transcript-level analysis on peripheral blood-derived RNA of the carriers was performed to test aberrant splicing. The completeness of the aberrant splicing event was also studied, existence and extent of nonsense-mediated decay was even addressed. Clinical and phenotype data, pedigree and co-segregation analyses were also done. Locus-specific loss of heterozygosity (LOH) in tumor tissues was additionally tested. Results In case of the BRCA1:c.4484+4dupA and the BRCA1:c.5407-10G>A variants functional results allowed us to reclassify them from VUS into likely pathogenic category. BRCA1:c.4358-31A>C, by producing incomplete aberrant splicing, was highlighted as strong VUS, but in lack of other supporting evidence, re-categorization was not possible. The likely pathogenic assertion of previously not reported BRCA2:c.8487G>T was reinforced based on its spliceogenic property and tumor LOH, while BRCA2:c.793G>A failed to present aberrant splicing in spite of suggestive predictions, which altered its original VUS evaluation into likely benign class. Conclusion We presented molecular and clinical evidence for reclassification of four out of five BRCA1/2 variants. Both up- and down-classification harbour important clinical significance. Patients carrying re-classified pathogenic variants in the future will not be dropped out from medical surveillance, preventive measures, treatment and predictive family screening in relatives at risk.
Kornely K. Kakachia 한양대학교 아태지역연구센터 2011 Journal of Eurasian Studies Vol.2 No.1
Since the collapse of the Soviet Union, the Caspian Sea and South Caucasus has become the focus of considerable international attention, primary because it is one of the oldest and potentially richest oil and gas producing areas in the world. The August 2008 Russian invasion of the Georgia and the unilateral recognition of the independence of Abkhazia and South Ossetia fundamentally changed the situation in the region. The war has created a new strategic situation. And the question is now how to handle this delicate situation in a strategically and geopolitically important region. So by controlling Georgia (in case Russia reaches abovementioned aims), Russia actually will be able to cut off Central Asia and Caspian resources. It means Russia would be able to isolate and cut off Azerbaijan and Central Asian countries and it will significantly strengthen its energy monopoly over Europe with all results coming out from that fact. So it’s about major shift in the energy policy and major shift in geopolitics based on this energy policy and Russian energy monopoly. The August war in Georgia demonstrated some risks associated with the functioning of the transit energy corridor in the southern Caucasus. It also demonstrated the need for broader security guarantees for a region that is vital to European and global energy security. Paper deals with economic damage inflicted by the Russo-Georgian war in South Caucasus and its implications for regional security.
Identity politics: Exploring Georgian foreign policy behavior
Kornely Kakachia,Salome Minesashvili 한양대학교 아태지역연구센터 2015 Journal of Eurasian Studies Vol.6 No.2
This paper analyses the extent to which Georgia's pro-Western foreign policy orientation stems from ideas and identity rather than from materialist and systemic factors alone. Finding such narrow approaches insufficient for explaining small state behavior, and drawing on liberal and constructivist approaches to international relations theory, the article argues that Georgia's foreign policy orientation has a strong basis in the widespread ideological perception amongst the local political elite that Georgia “belongs” in the West. Based on this theoretical framework, this paper provides a historical overview of Georgia's foreign policy, tracing the evolution of Georgia's identity from seeing itself as “Christian” in contrast to its Islamic neighbors, to identifying as European in contrast to a modern, Russian “other”. As Georgia attempts to construct a collective international identity, the devotion to the idea of Euro-Atlantic integration as a “sacred destiny” amongst the country's elite has significant foreign policy implications. This article overviews the current challenges and dilemmas of self-identification and investigates the roles that national identity and the prevailing “European” identity play in Georgia's quest for “desovietization”.
Design of School Management Information System Based on the Indonesian National Education Standard
Kornelis, Marsella,Ock, Young Seok The Korea Contents Association 2014 International Journal of Contents Vol.10 No.2
With a population of around 237,424,363 in 33 provinces, Indonesia is one developing countries that needs an excellent School Management Information System (SMIS) to accomplish its educational mission. To reach the goal, it is necessary to know the rules, culture of school and related data prior to building the SMIS. This study is focused on the Indonesian National Education Standards. It is has nine standards that are described by the Regulation of Education Ministry. To manage the schools' organization, this paper aims to develop a SMIS based on the Indonesian National Education Standards by using ARIS(Architecture of Integrated Information System) to help schools run efficiently. The new system will be built using UML(Unified Modeling Language), this new system conforms to the education rules of the government. Finally, the conclusion and future research are described.
Lertpipopmetha, Korn,Tubtawee, Teeravut,Piratvisuth, Teerha,Chamroonkul, Naichaya Asian Pacific Journal of Cancer Prevention 2016 Asian Pacific journal of cancer prevention Vol.17 No.11
Background: Hepatocellular carcinomas (HCCs) less than 2 cm in diameter generally demonstrate a good outcome after curative therapy. However, the diagnosis of small HCC can be problematic and requires one or more dynamic imaging modalities. This study aimed to compare the sensitivity and agreement between CT and MRI for the diagnosis of small HCCs. Methods: CT and/or MRI scans of HCCs (1-2 cm) diagnosed by histopathology or typical vascular pattern according to the 2005 AASLD criteria were blindly reviewed by an abdominal radiologist. The reports were defined as conclusive/typical when arterial enhancement and washout during the portal/delayed phases were observed and as inconclusive when typical vascular patterns were not observed. The sensitivity and Cohen's kappa (k) for agreement were calculated. Results: In 27 patients, 27 HCC nodules (1-2 cm) were included. Diagnosis with a single-imaging modality (CT or MRI) was 81 % versus 48 % (p = 0.01). The CT sensitivity was significantly higher than MRI (78 % versus 52 %, p = 0.04). Among 27 nodules that underwent both CT and MRI, a discordance in typical enhancement patterns was found (k = 0.319, p = 0.05). In cases with inconclusive CT results, MRI gave only an additional 3.7 % sensitivity to reach a diagnosis. In contrast, further CT imaging following inconclusive MRI results gave an additional 29.6 % sensitivity.Conclusions: A single typical imaging modality is sufficient to diagnose small HCCs. Compared with MRI, multiphasic CT has a higher sensitivity. The limitations of MRI could be explained by the greater need for patient cooperation and the types of MRI contrast agent.
Design of School Management Information System Based on the Indonesian National Education Standard
Marsella Kornelis,Young Seok Ock 한국콘텐츠학회(IJOC) 2014 International Journal of Contents Vol.10 No.2
With a population of around 237,424,363 in 33 provinces, Indonesia is one developing countries that needs an excellent School Management Information System (SMIS) to accomplish its educational mission. To reach the goal, it is necessary to know the rules, culture of school and related data prior to building the SMIS. This study is focused on the Indonesian National Education Standards. It is has nine standards that are described by the Regulation of Education Ministry. To manage the schools’ organization, this paper aims to develop a SMIS based on the Indonesian National Education Standards by using ARIS(Architecture of Integrated Information System) to help schools run efficiently. The new system will be built using UML(Unified Modeling Language), this new system conforms to the education rules of the government. Finally, the conclusion and future research are described.