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Kim H.,Hallym University | Cho D.-Y.,LabGenomics Clinical Research Institute | Choi D.H.,Sungkyunkwan University | Choi S.-Y.,LabGenomics Clinical Research Institute | And 10 more authors.
Breast Cancer Research and Treatment | Year: 2012

This investigation is aimed at evaluating the epidemiologic characteristics of BRCA1/2 germline mutations in Korean patients with breast and ovarian cancer (BOC). We analyzed the entire mutational data of BRCA1/2 genes in BOC patients who were tested in Korea since the first Korean report of BRCA1 mutation in 1995 with the exception of the data covered in the Korean Hereditary Breast Cancer (KOHBRA) study, the project launched in 2007 for establishing BRCA1/2 carrier cohorts in Korea. In total, BRCA1/2 gene mutations of 3,922 Korean BOC patients were evaluated, including the unpublished data of 2,139 breast cancer patients examined by four Korean institutions and the data of 1,783 BOC patients covered in ten previous reports. Overall, 420 (150 distinct) pathogenic mutations were identified, 211 (73 distinct) in BRCA1 and 209 (77 distinct) in BRCA2. The majority (134 of 150) of the distinct mutations resulted in premature termination codon of the BRCA1/2 translation. BRCA1 c.4186-1593-4676-1465del was the only large genomic rearrangements mutation. Out of 150 distinct BRCA1/2 mutations, 84 (56 %) mutations were considered specific to Korean BOC. Eighty-five BRCA1/2 mutations were detected in at least two unrelated patients. These recurrent mutations account for 84.5 % (355 of 420) of mutations detected in the Korean population. In the pooled mutational data of BRCA1/2 genes, this study discovered the prevalence of BRCA1/2 mutations in the Korean BOC patients is similar to those found in other ethnic groups. Large genomic rearrangements in BRCA1/2 genes were infrequently detected among the Korean patients with BOC. There were several BRCA1/2 mutation candidates for founder mutations. To further establish a Korean cohort for BRCA1/2 mutations, the nationwide KOHBRA study is in progress. © Springer Science+Business Media, LLC. 2012.


Han S.-H.,Seoul Medical Science Institute | Heo Y.-A.,Seoul Medical Science Institute | Kwon O.-J.,Biowithus Life Science Institute | Kim Y.-J.,Seoul Medical Science Institute | Lee K.-R.,Seoul Medical Science Institute
Tissue Antigens | Year: 2014

HLA-C*08:78 differs from C*08:01:01 by a nonsynonymous mutation at codon 239 (GGA to AGA) in exon 4. © 2013 John Wiley & Sons A/S.


Son G.H.,Yonsei University | Kwon J.Y.,Yonsei University | Lee S.,Seoul Medical Science Institute | Park J.,Seoul Medical Science Institute | And 3 more authors.
European Journal of Obstetrics Gynecology and Reproductive Biology | Year: 2013

Objective: To compare the levels of urinary excretion of nephrin in women experiencing either normotensive or severe preeclamptic pregnancies, and to examine the relationship between urinary nephrin levels and clinical parameters of preeclampsia. Study design: In a case control study we collected serum and urine specimens from women with normal pregnancy (n = 30) and from women with severe preeclampsia (n = 43). Serum nephrin levels and urinary nephrin concentrations were measured in all patients. Results: Both serum and urine concentrations of nephrin were significantly higher in the severe preeclamptic group than in the normal pregnancy group. In addition, we identified a significant relationship between urinary nephrin levels and urine protein concentrations in the severe preeclamptic group. Urine nephrin concentrations were also correlated with serum creatinine levels and with diastolic blood pressure in the severe preeclamptic group. Conclusion: The positive correlations observed in this study suggest that urinary nephrin excretion might play an important role in the pathogenesis of proteinuria during preeclampsia and could be a good indicator of renal damage. © 2012 Elsevier Ireland Ltd.


Nam Y.S.,Kyung Hee University | Cho S.Y.,Kyung Hee University | Yang H.Y.,Kosin University | Park K.S.,Samsung | And 5 more authors.
International Journal of Antimicrobial Agents | Year: 2013

This study investigated the distribution of mutations in DNA gyrase (gyrA and gyrB) and topoisomerase IV (parC and parE) genes and compared the distribution of these mutations with the distribution of plasmid-mediated quinolone resistance (PMQR) genes and extended-spectrum β-lactamase (ESBL) production in 101 ciprofloxacin-non-susceptible Enterobacteriaceae from blood culture isolates (80 Escherichia coli and 21 Klebsiella pneumoniae) isolated in Kyung Hee University Hospital, a tertiary care university hospital in Seoul, South Korea. Among the 101 isolates, 80 (79.2%) contained PMQR genes and 28 (27.7%) produced ESBL. Mutations in the gyrA and parC genes were observed more frequently than in the gyrB and parE genes as well as more frequently in E. coli than in K. pneumoniae isolates, even in the same ciprofloxacin minimum inhibitory concentration (MIC) range of the two species. In E. coli isolates, the distribution of the codon 529 mutation (Ile→Leu) in parE was increased with an increase in the ciprofloxacin MIC. An increase in high-level resistance to quinolones may occur with double mutations compared with a single mutation in gyrA as well as with additional mutations in parC. However, this finding could not be applied to ciprofloxacin-resistant K. pneumoniae. A higher level of quinolone resistance may be correlated with an additional mutation in parE, especially Ile529→Leu. © 2012 Elsevier B.V. and the International Society of Chemotherapy.


Han S.-H.,Seoul Medical Science Institute | Ryu J.-S.,Seoul Medical Science Institute | Kim Y.-J.,Seoul Medical Science Institute | Cho H.-I.,Seoul Medical Science Institute | And 2 more authors.
Familial Cancer | Year: 2011

Germline mutations within the adenomatous polyposis coli (APC) gene are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date more than 900 different APC germline mutations have been characterized worldwide demonstrating allelic heterogeneity. Here, we analyzed the APC gene in 23 DNA samples from unrelated Korean patients with the typical clinical symptoms of FAP by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing. We identified 20 different APC sequence variants, including 9 truncating mutations, 1 missense mutation, 7 polymorphisms, and 3 intronic variants. Nine different truncating mutations, including four novel mutations (p.Leu180TyrfsX5, p.Gly567X, p.Ser1275PhefsX13, p.Leu1280CysfsX8), were detected. The most common mutation was a 5 bp deletion at codon 1,309 (p.Glu1309AspfsX4) as in Western studies. The next most common mutation was p.Ser1275PhefsX13 with a severe form of FAP with many extracolonic manifestations; this was a novel mutation identified in our study and may represent the second hot-spot mutation in a Korean population. Novel mutations are of particular interest because of the unusual phenotypic features shown by patients. In present study, we found new positions associated with thyroid cancer (codon 180) and desmoid tumor (codon 1,280), which have not been previously reported. The results of this molecular study have revealed the existence of novel pathogenic mutations in Korean patients with FAP. In addition to allowing phenotype-genotype correlations to be performed, these results are currently being used in genetic counseling and in patient care. © 2010 Springer Science+Business Media B.V.


Kwon C.,Konkuk University | Lee S.,Seoul Medical Science Institute | Jung S.,Konkuk University
Carbohydrate Research | Year: 2011

Low-molecular-weight (LMW) succinoglycans (monomers, dimers, and trimers) were isolated from Sinorhizobium meliloti 1021 and have been firstly investigated by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) using 2,4,6-trihydroxyacetophenone (THAP) as an optimal matrix in the negative ion mode. The main fractions of LMW succinoglycans contain molecules assembled of octasaccharide subunits. MALDI-TOF mass spectra of the LMW succinoglycan monomers, the dimers, and the trimers showed the daughter ions resulting from the losses of the terminal galactose residues at the reducing ends, clearly indicating that the galactosyl linkages are more labile than the other glucosyl linkages. Furthermore, the losses of the acetyl groups as substituents rather than the succinyl and pyruvyl ester linkages by prompt fragmentation primarily occurred during MALDI-TOF analysis, suggesting the greater instability of acetyl linkages compared to pyruvyl and succinyl linkages. © 2011 Elsevier Ltd. All rights reserved.


Jang S.,Yonsei University | Kim Y.T.,Yonsei University | Chung H.W.,Yonsei University | Lee K.-R.,Seoul Medical Science Institute | And 2 more authors.
Cancer | Year: 2012

Background: A study was undertaken to identify new immunogenic human leukocyte antigen (HLA)-A*2402-restricted epitopes from human papillomavirus (HPV) type 16 E7 protein for immunotherapy against cervical cancer. Methods: Synthetic overlapping peptides were screened by measuring the frequency of CD8 + cytotoxic T lymphocytes (CTLs) producing intracellular interferon-γ (IFN-γ) using flow cytometry and were validated in SiHa cells with a Cr release cytotoxicity assay. In vivo antitumor effects of peptide-sensitized peripheral blood mononuclear cells (PBMCs) and isolated CD8 + CTLs were evaluated using BALB/c nude mice with SiHa cell xenotransplants. Results: Among 14 overlapping 15-amino acid peptides, E7 61-75(CDSTLRLCVQSTHVD) and E7 67-81(LCVQSTHVDIRTLED) induced significantly higher IFN-γ production (P <.05) and showed higher in vitro cytotoxicity against SiHa cells than did cells sensitized with the negative control. To determine the exact HLA-A*2402-restricted epitopes, a total of 25 overlapping 9- or 10-amino acid peptides spanning E7 61-75 and E7 67-81 were synthesized. E7 61-69(CDSTLRLCV) and E7 67-76(LCVQSTHVDI) induced significantly greater IFN-γ production as well as increased in vitro cytotoxicity against SiHa cells compared with those of other peptides and the negative control (P <.01), and the antitumor effects of these peptide-sensitized PBMCs were induced by CD8 + CTLs. E7 61-69-sensitized and E7 67-76-sensitized PBMCs and isolated CD8 + CTLs showed a much greater suppression of tumor growth in vivo compared with that of control groups treated with PBS (P <.01). The authors also confirmed the synergistic antitumor effect of cisplatin followed by E7 67-76-sensitized PBMCs in vivo. Conclusions: E7 61-69 and E7 67-76 were identified as novel HPV type 16 E7 epitopes for HLA-A*2402, which could be used for immunotherapy against cervical cancer. © 2011 American Cancer Society.


Choi S.J.,Yonsei University | Park S.D.,Yonsei University | Jang I.H.,Yonsei University | Uh Y.,Yonsei University | Lee A.,Seoul Medical Science Institute
Annals of Laboratory Medicine | Year: 2012

Background: To investigate the risk factors for vaginal infections and antimicrobial susceptibilities of vaginal microorganisms among women who experienced preterm birth (PTB), we compared the prevalence of vaginal microorganisms between women who experienced preterm labor (PTL) without preterm delivery and spontaneous PTB. Methods: Vaginal swab specimens from 126 pregnant women who experienced PTL were tested for group B streptococcus (GBS), Mycoplasma hominis, Mycoplasma genitalium, Ureaplasma urealyticum, Chlamydia trachomatis, Trichomonas vaginalis, Neisseria gonorrhoeae, Treponema pallidum, herpes simplex virus (HSV) I and II, and bacterial vaginosis. A control group of 91 pregnant women was tested for GBS. Antimicrobial susceptibility tests were performed for GBS, M. hominis, and U. urealyticum. Results: The overall detection rates for each microorganism were: U. urealyticum, 62.7%; M. hominis, 12.7%; GBS, 7.9%; C. trachomatis, 2.4%; and HSV type II, 0.8%. The colonization rate of GBS in control group was 17.6%. The prevalence of GBS, M. hominis, and U. urealyticum in PTL without preterm delivery and spontaneous PTB were 3.8% and 8.7% (relative risk [RR], 2.26), 3.8% and 17.3% (RR, 4.52), and 53.8% and 60.9% (RR, 1.13), respectively, showing no significant difference between the 2 groups. The detection rate of M. hominis by PCR was higher than that by culture method (11.1% vs. 4.0%, P = 0.010). The detection rates of U. urealyticum by PCR and culture method were 16.7% and 57.1%, respectively. Conclusions: There was no significant difference in the prevalence of GBS, M. hominis, and U. urealyticum between the spontaneous PTB and PTL without preterm delivery groups. © The Korean Society for Laboratory Medicine.


Park B.G.,Yonsei University | Yoon J.G.,Yonsei University | Rim J.H.,Yonsei University | Lee A.,Seoul Medical Science Institute | Kim H.-S.,Yonsei University
Journal of Clinical Microbiology | Year: 2016

Six different Treponema (TP)-specific immunoassays were compared to the fluorescent treponemal antibody absorption (FTAABS) test. A total of 615 samples were tested. The overall percent agreement, analytical sensitivity, and analytical specificity of each assay compared to the FTA-ABS test were as follows: Architect Syphilis TP, 99.2%, 96.8%, and 100%; Cobas Syphilis, 99.8%, 99.4%, and 100%; ADVIA Centaur Syphilis, 99.8%, 99.4%, and 100%; HISCL Anti-TP assay kit, 99.7%, 98.7%, and 100%; Immunoticles Auto3 TP, 99.0%, 97.5%, and 99.6%; Mediace TPLA, 98.0%, 98.1%, and 98.0%. All results that were discrepant between the TP-specific assays were associated with samples from noninfectious cases (11 immunoassay false positives and 7 from previous syphilis cases). Our study demonstrated that TP-specific immunoassays generally showed high sensitivities, specificities, and percentages of agreement compared to FTA-ABS, with rare cases of false-positive or false-negative results. Therefore, most TPspecific immunoassays are acceptable for use in screening for syphilis. However, it is important to perform a thorough review of a patient's clinical and treatment history for interpreting the results of syphilis serology. © 2015, American Society for Microbiology. All Rights Reserved.


PubMed | Konkuk University and Seoul Medical Science Institute
Type: Journal Article | Journal: Annals of clinical and laboratory science | Year: 2016

At diagnosis, fewer than 10% of chronic myelogenous leukemia (CML) patients have additional cytogenetic abnormalities (ACAs), which are frequently found in transformation to blast crisis. We report a case of CML-chronic phase (CML-CP) that showed t(1;15) at diagnosis. A 64-year-old man presented with sustained leukocytosis and thrombocytosis. His bone marrow (BM) was hypercellular with 2.5% blasts and BCR-ABL1 rearrangement. The karyotype in the BM was 46,XY,t(1;15)(q32;p13),t(9;22)(q34;q11.2)[20], while the karyotype in the peripheral blood was 46,XY[20]. This is the first report on the presence of t(1;15) at diagnosis of CML-CP, and its clinical significance remains unclear.

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