Susceptibility for breast cancer in young patients with short rare minisatellite alleles of BORIS

( Se Lyun Yoon ),( Dae Cheol Kim ),( Se Heon Cho ),( Sang Yeop Lee ),( In Sun Chu ),( Jeong Hoon Heo ),( Sun Hee Leem ) 생화학분자생물학회 (구 한국생화학분자생물학회) 2010 BMB Reports Vol.43 No.10

In this study, we characterized two blocks of minisatellites in the 5` upstream region of the BORIS gene (BORIS-MS1, -MS2). BORIS-MS2 was found to be polymorphic; therefore, this locus could be useful as a marker for DNA fingerprinting. We assessed the association between BORIS-MS2 and breast cancer by a case-control study with 428 controls and 793 breast cancers cases. Rare alleles in the younger group (age, <40) were associated with a statistically significant increased risk of breast cancer (odds ratio, 4.84; 95% confidence interval, 1.06-22.22; and P = 0.026). A statistically significant association between the short rare alleles and cancer was identified in the younger group (8.02; 1.01-63.83; P = 0.021). Kaplan-Meier estimates showed that poor prognosis was associated with patients who contained the rare alleles. Our data suggest that the short rare alleles of BORIS-MS2 could be used to identify the risk for breast cancer in young patients. [BMB reports 2010; 43(10): 698-703]

Analysis of Promoter Methylation and Polymorphic Minisatellites of <i>BORIS</i> and Lack of Association with Gastric Cancer

Yoon, Se-Lyun,Roh, Yun-Gil,Lee, Sang-Ho,Kim, Si-Hoon,Kim, Min Chan,Kim, Su Jin,Leem, Sun-Hee Mary Ann Liebert 2011 DNA and cell biology Vol.30 No.9

Variants of BORIS minisatellites and relation to prognosis of prostate cancer

Se-Lyun Yoon,정세일,Wun-Jae Kim,Seung Il Kim,박인호,임선희 한국유전학회 2011 Genes & Genomics Vol.33 No.1

BORIS, a member of the cancer-testis antigen family with testis specific expression, showed abnormal expression in various cancer types including prostate cancer. In our previous work,we identified the polymorphic minisatellite, BORIS-MS2, located in the promoter region of BORIS. BORIS-MS2 was revealed as a polymorphic minisatellite that contains seven alleles each with different numbers of the repeat unit. We assessed the association between the allelic variation of BORIS-MS2 and prostate cancer by a case-control study. Using a PCR-based method, 315 cancer-free male controls and 648 cases with prostate cancer were genotyped. There was no significant difference observed in the overall distribution of this minisatellite, which indicates that this polymorphism is not responsible for prostate cancer susceptibility in the Korean population. Additionally, two new rare alleles (9 and 19 copies) were detected in this study, which were identified only in cancer subjects. When we compared the clinicopathological information with the Jewett-Whitmore system of prostate cancer classification, the frequency of rare allele cases in the higher grade was significantly higher than in the total prostate group (P = 0.032). The higher grades in the Jewett-Whitmore system were associated with a poor prognosis. Therefore, this result suggests that the rare alleles of BORIS-MS2 may be used as a marker of poor outcome in prostate cancer patients.

Conservation of intronic minisatellite polymorphisms in the SCK1/SHC2 gene of Hominidae

Yoon, Se-Lyun,Jeong, Yunhee,Kim, Heui-Soo,Ahn, Eun-Kyung,Seol, So-Young,Lee, Sang-Yeop,Roh, Yun-Gil,Gim, Jeong-An,Hwang, Spring Yewon,Kang, Tae-Hong,Chung, Jin Woong,Leem, Sun-Hee Springer-Verlag 2014 Genes & Genomics Vol.36 No.3

The neuronally expressed Shc adaptor homolog SCK1/SHC2 gene contains an unusually high number of minisatellites. In humans, twelve different minisatellite sequences are located in introns of SCK1/SHC2 and ten of them are highly polymorphic. Here we used primers developed for humans to screen ten intronic loci of SCK1/SHC2 in chimpanzee and gorilla, and undertook a comprehensive analysis of the genomic sequence to address the evolutionary events driving these variable repeats. All ten loci amplified in chimpanzee and gorilla contained hypervariable and low-variability minisatellites. The human polymorphic locus TR1 was monomorphic in chimpanzee and gorilla, but we detected polymorphic alleles in these apes for the human monomorphic TR7 locus. When we examined the repeat size among these hominoids, there was no consistent variation by length from humans to great apes. In spite of the inconsistent evolutionary dynamics in repeat length variation, exon 16 was highly conserved between humans and great apes. These results suggest that non-coding intronic minisatellites do not show a consistent evolutionary paradigm but evolved with different patterns among each minisatellite locus. These findings provide important insight for minisatellite conservation during hominoid evolution.

Neoadjuvant Imatinib in Locally Advanced Gastrointestinal Stromal Tumors of the Stomach: Report of Three Cases

오지선,Jae-Lyun Lee,김미정,Min-Hee Ryu,Heung Moon Chang,Tae Won Kim,Se Jin Jang,Jeong Hwan Yook,Sung Tae Oh,Byung Sik Kim,Yoon-Koo Kang 대한암학회 2006 Cancer Research and Treatment Vol.38 No.3

Neoadjuvant imatinib therapy used to treat locally advanced or metastatic gastrointestinal stromal tumors (GI ST) remains under active investigation. We studied three cases of locally advanced gastric GISTs treated with imatinib on a neoadjuvant basis, followed by a complete surgical resection. Three patients were diagnosed with locally advanced unresectable GIST of the stomach and were started on imatinib 400 mg/day. After the imatinib treatment, partial responses were achieved in all patients and the tumors were considered resectable. Surgical resection was done after 7, 11, and 8 months of imatinib therapy, respectively. In one case, a metastatic liver lesion was detected during the imatinib treatment using computed tomography scans, so the imatinib therapy was maintained for 11 months postoperatively. In the other two patients without distant metastasis, imatinib treatment was not restarted after surgery. Mutational analysis revealed a mutation in exon 11 of the c-kit gene in two patients, and wild-type c-kit and PDGFRA in one patient. During pathology review of all three cases, we noted several features common to imatinib treatment. There was no evidence of tumor recurrence in all three patients at respective follow-up visits of 22, 15, and 7 months. These results suggest that the neoadjuvant imatinib therapy is a potentially curative approach for selected patients with locally advanced GIST. (Cancer Res Treat. 2006;38:178-183)

Characterization of unstable minisatellites in the human SCK1/SLI gene

Yun Hee Jeong,Se Lyun Yoon,Woo Yeon Kim,Seung Il Kim,Jae Woo Kim,Yang Il Sunwoo,Sun Hee Leem 한국유전학회 2006 Genes & Genomics Vol.28 No.4

In our previous work, the gap region that included the SCK1/SLI gene, which corresponded to GAP1 of human chromosome 19, was cloned using a yeast host system. Further analysis of the GAP1 sequence revealed that it contained several abnormalities, including large blocks of tandem repeats that could result in instability in E. coli. To characterize these repeated regions, we evaluated the DNA composition, phylogenic tree, and pairwise distances of its minisatellites. Furthermore, we examined the cloning efficiency of each minisatellite into the TA vector and the instability of the minisatellites during propagation in E. coli. From these studies, we observed that seven minisatellite regions yielded 0-30% cloning frequency, while others were cloned efficiently (90-100%). The cloning frequency in bacteria is affected by the GC content and the length of the repeats; however, the maintenance of the clones was unaffected by minisatellites. We suggest that minisatellite rearrangement can occur in the early stage of plasmid construction and duplication, thus their instability is dependent on both their length and DNA composition.

Target DNA 염기서열 내에 존재하는 비상동성 간격이 상동성재조합을 이용한 클로닝 빈도에 미치는 영향

김재우,도은주,윤세련,정윤희,윤영호,임선희,선우양일,박인호,Kim Jae-Woo,Do Eun-Ju,Yoon Se-Lyun,Jeong Yun-Hee,Yoon Young-Ho,Leem Sun-Hee,Sunwoo Yangil,Park In-Ho 한국미생물학회 2005 미생물학회지 Vol.41 No.4

Transformation-associated recombination (TAR) 클로닝 법은 복잡한 게놈으로부터 염색체 내의 특정부위나 유전자를 선택적으로 분리할 수 있다. 이 방법은 목적 유전자에 근접한 작은 게놈DNA 염기서열 정보를 필요로 한다. 이 기술은 효모의 spheroplast transformation을 시키는 동안 목적으로 하는 유전자의 5' 또는 3' 서열을 포함하고 있는 TAR vector와 게놈DNA사이에서 일어나는 상동성재조합에 의해 이루어진다. 본 연구에서는 plasmid 모델시스템을 이용하여 target hooks 내에 존재하는 비상동성 염기서 열이 상동성재조합에 미치는 영향을 조사하였다. plasmid에 존재하는HIS3유전자와 변형시킨 his3-TRP1-his3 단편 사이의 상동성재조합의 효율은 $Ura^+$ 형질전환체의 형질분석에 의해 이루어졌다. $Ura^+$ 형질전환체의 수는 7종류의 서로 달리 변형된 his3-TRP1-his3 단편들을 사용하였을 매 거의 동일하게 나타났다. 그러나 $Trp^+His^+$ positive recombinants의 빈도는 변형된 his3-TRP1-his3 단편 내에 비상동성 영역에 부정확한 간격을 지닐 때 현저한 감소를 나타내었다. 이러한 결과로서, 부정확한 간격이 target hook과 substrate DNA 사이에 일어나는 상동성재조합을 방해하는 것으로 사료된다. 그러므로 이종간의 상동유전자를 클로닝 할 때에는 target hook내의 비상동성 염기서열이 존재한다면 이것이 정확한 간격을 지니는지 여부를 중요란 요인으로 고려해야 한다. Transformation-Associated Recombination (TAR) cloning technique allows selective isolation of chromosomal regions and genes from complex genomes. The procedure requires knowledge of relatively small genomic sequences that reside adjacent to the chromosomal region of interest. This technique involves homologous recombination during yeast spheroplast transformation between genomic DNA and a TAR vector that has 5' and 3' gene targeting sequences. In this study, we examined the effect of non-homologous spacing sequence in target hooks on homologous recombination using a plasmid model system. The efficiency of homologous recombination between the modified his3-TRP1-his3 fragments and HlS3 gene on plasmid were analyzed by the characterization of $Ura^+$ transformants. The numbers of $Ura^+$ transformant showed same level when seven different modified his3-TRP1-his3 fragments were used. But the percentage of positive recombinants. $Trp^+His^-$, dramatically decreased when used the modified his3-TRP1-his3 fragments contained incorrect spacing of nonhomologous region. As a result, we suggest that incorrect spacing inhibits the homologous recombination between target hook and substrate DNA. Therefore, we should consider the correct spacing in target hook when the target hook are used for cloning of orthologue gene.

Ultrasonography Diagnosis and Imaging-Based Management of Thyroid Nodules: Revised Korean Society of Thyroid Radiology Consensus Statement and Recommendations

Shin, Jung Hee,Baek, Jung Hwan,Chung, Jin,Ha, Eun Ju,Kim, Ji-hoon,Lee, Young Hen,Lim, Hyun Kyung,Moon, Won-Jin,Na, Dong Gyu,Park, Jeong Seon,Choi, Yoon Jung,Hahn, Soo Yeon,Jeon, Se Jeong,Jung, So Lyun The Korean Society of Radiology 2016 KOREAN JOURNAL OF RADIOLOGY Vol.17 No.3

<P>The rate of detection of thyroid nodules and carcinomas has increased with the widespread use of ultrasonography (US), which is the mainstay for the detection and risk stratification of thyroid nodules as well as for providing guidance for their biopsy and nonsurgical treatment. The Korean Society of Thyroid Radiology (KSThR) published their first recommendations for the US-based diagnosis and management of thyroid nodules in 2011. These recommendations have been used as the standard guidelines for the past several years in Korea. Lately, the application of US has been further emphasized for the personalized management of patients with thyroid nodules. The Task Force on Thyroid Nodules of the KSThR has revised the recommendations for the ultrasound diagnosis and imaging-based management of thyroid nodules. The review and recommendations in this report have been based on a comprehensive analysis of the current literature and the consensus of experts.</P>