1.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
2.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
3.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
4.Comparison of Ocular Biometry and Refractive Measurements from Myopia Master with Lenstar and KR-1 Autorefractor
Journal of the Korean Ophthalmological Society 2024;65(12):778-785
Purpose:
To compare axial length (AL), keratometry (K), and refractive measurements using Myopia Master, Lenstar, and KR-1 autorefractor.
Methods:
The study involved 44 eyes of 44 children who visited our clinic. We compared AL, flat K, steep K, mean K, and spherical equivalent (SE) measured by Myopia Master, Lenstar, and KR-1. We utilized a paired t-test and RM-ANOVA to compare mean differences and used Bland–Altman plots, intraclass correlation coefficients (ICCs), and Pearson correlation tests for agreement analysis.
Results:
The mean ALs (mm) measured with Myopia Master and Lenstar were 24.59 ± 0.91 mm and 24.60 ± 0.91 mm, respectively, with no statistical differences (p = 0.085). Both the ICC and Pearson correlation coefficient were 0.999. The mean SEs (D) measured with Myopia Master and KR-1 were -3.32 ± 1.75 D and -3.18 ± 1.68 D, respectively, with significant differences (p < 0.001). The ICC was 0.996 and the Pearson correlation coefficient was 0.995. The mean K (D) values measured by Myopia Master, KR-1, and Lenstar were 43.15 ± 1.59 D, 43.38 ± 1.58 D, and 43.32 ± 1.63 D, respectively, and differed significantly (p < 0.001).
Conclusions
While statistical differences emerged in SEs between Myopia Master and KR-1, the differences were not clinically significant and the tools may be used interchangeably due to their good agreement. However, measured K values differed among Myopia Master, KR-1, and Lenstar, so these tools are not interchangeable. Based on the results from paired t-tests, ICCs, and Pearson correlations, AL measurements were in good agreement between Myopia Master and Lenstar but caution should be exercised due to the wider range of measured values.
5.Comparison of Ocular Biometry and Refractive Measurements from Myopia Master with Lenstar and KR-1 Autorefractor
Journal of the Korean Ophthalmological Society 2024;65(12):778-785
Purpose:
To compare axial length (AL), keratometry (K), and refractive measurements using Myopia Master, Lenstar, and KR-1 autorefractor.
Methods:
The study involved 44 eyes of 44 children who visited our clinic. We compared AL, flat K, steep K, mean K, and spherical equivalent (SE) measured by Myopia Master, Lenstar, and KR-1. We utilized a paired t-test and RM-ANOVA to compare mean differences and used Bland–Altman plots, intraclass correlation coefficients (ICCs), and Pearson correlation tests for agreement analysis.
Results:
The mean ALs (mm) measured with Myopia Master and Lenstar were 24.59 ± 0.91 mm and 24.60 ± 0.91 mm, respectively, with no statistical differences (p = 0.085). Both the ICC and Pearson correlation coefficient were 0.999. The mean SEs (D) measured with Myopia Master and KR-1 were -3.32 ± 1.75 D and -3.18 ± 1.68 D, respectively, with significant differences (p < 0.001). The ICC was 0.996 and the Pearson correlation coefficient was 0.995. The mean K (D) values measured by Myopia Master, KR-1, and Lenstar were 43.15 ± 1.59 D, 43.38 ± 1.58 D, and 43.32 ± 1.63 D, respectively, and differed significantly (p < 0.001).
Conclusions
While statistical differences emerged in SEs between Myopia Master and KR-1, the differences were not clinically significant and the tools may be used interchangeably due to their good agreement. However, measured K values differed among Myopia Master, KR-1, and Lenstar, so these tools are not interchangeable. Based on the results from paired t-tests, ICCs, and Pearson correlations, AL measurements were in good agreement between Myopia Master and Lenstar but caution should be exercised due to the wider range of measured values.
6.Comparison of Ocular Biometry and Refractive Measurements from Myopia Master with Lenstar and KR-1 Autorefractor
Journal of the Korean Ophthalmological Society 2024;65(12):778-785
Purpose:
To compare axial length (AL), keratometry (K), and refractive measurements using Myopia Master, Lenstar, and KR-1 autorefractor.
Methods:
The study involved 44 eyes of 44 children who visited our clinic. We compared AL, flat K, steep K, mean K, and spherical equivalent (SE) measured by Myopia Master, Lenstar, and KR-1. We utilized a paired t-test and RM-ANOVA to compare mean differences and used Bland–Altman plots, intraclass correlation coefficients (ICCs), and Pearson correlation tests for agreement analysis.
Results:
The mean ALs (mm) measured with Myopia Master and Lenstar were 24.59 ± 0.91 mm and 24.60 ± 0.91 mm, respectively, with no statistical differences (p = 0.085). Both the ICC and Pearson correlation coefficient were 0.999. The mean SEs (D) measured with Myopia Master and KR-1 were -3.32 ± 1.75 D and -3.18 ± 1.68 D, respectively, with significant differences (p < 0.001). The ICC was 0.996 and the Pearson correlation coefficient was 0.995. The mean K (D) values measured by Myopia Master, KR-1, and Lenstar were 43.15 ± 1.59 D, 43.38 ± 1.58 D, and 43.32 ± 1.63 D, respectively, and differed significantly (p < 0.001).
Conclusions
While statistical differences emerged in SEs between Myopia Master and KR-1, the differences were not clinically significant and the tools may be used interchangeably due to their good agreement. However, measured K values differed among Myopia Master, KR-1, and Lenstar, so these tools are not interchangeable. Based on the results from paired t-tests, ICCs, and Pearson correlations, AL measurements were in good agreement between Myopia Master and Lenstar but caution should be exercised due to the wider range of measured values.
7. Effect of NMDA receptor blocker in relieving HIV-1/gp120 induced learning and memory disorder in rats and its mechanism
Mei LIANG ; Jia-Jia YU ; Xi-Yong XIANG ; Si-Yu XIA ; Shan LI ; Yi-Rong ZENG ; Li-Xuan WANG ; Yi-Un ZHOU ; Yan ZHOU ; Shan LI ; Yan ZHOU
Chinese Pharmacological Bulletin 2023;39(6):1149-1156
Aim: To investigate the alleviating effect of NMDA receptor blocking on learning and memory impairment induced by gp120 in rats and its mechanism. Methods: (1 ) Thirty-two SD rats were randomly divided into control group, sham operation group, gpl20 group, and gp120 + Memantine group. Except for the control group, the other groups underwent a bilateral hippocampal injection to establish the model of learning and memory impairment in rats. Memantine (10 mg • kg
8.Construction of the Evaluation System of the Research Quality of Medical Insurance Budget Impact Analysis
Minjiao WANG ; Can LI ; Yi DU ; Pengcheng LIU ; Chunye CAO ; Yang CAO
China Pharmacy 2020;31(21):2567-2573
OBJECTIVE:To construc t the evaluation system of the research quality of medical insurance budget impact analysis (BIA),and to provide feasible evaluation tool for related departments as medical insurance department. METHODS :Based on BIA guidance documents and relevant empirical literatures of ISPOR ,Canada,Poland,the United States and other countries , combined with expert interview ,the relevant elements of medical insurance negotiation BIA material were confirmed (including key elements and adjuctive elements ). The scale and system was established to calculate total score of BIA research quality evaluation. RESULTS :Key elements included three data blocks as target population ,market situation and treatment cost ,involving 14 key elements such as total population ,new drug scenario market share ,treatment cost ,etc.. According to the degree of compliance,0-3 points were assigned and the lowest score after normalization was taken as the basic score of BIA research quality. The adjunctive elements included five data blocks as title & abstract ,research background ,analysis framework ,result presentation and other ,including 23 adjunctive elements such as title ,abstract,research angle ,research time limit ,etc.. According to whether there is quality grade difference ,the elements were divided into type A and type B ;the grade score (0-4 points)and 0/1 score(1 point for yes and 0 point for no )were used respectively ,and the additional score of BIA research quality was obtained after calculation and addition. According to the addition of different weights (0.67 and 0.33)of basic score and additional score ,the total score system of BIA research quality evaluation could be calculated. CONCLUSIONS :This study successfully constructed a new BIA quality evaluation system ,which can be used for the quality evaluation of BIA research submitted by medical insurance drug negotiation.
9.Serotype Distribution and Antimicrobial Resistance of Invasive and Noninvasive Streptococcus pneumoniae Isolates in Korea between 2014 and 2016
Dong Chul PARK ; Si Hyun KIM ; Dongeun YONG ; In Bum SUH ; Young Ree KIM ; Jongyoun YI ; Wonkeun SONG ; Sae Am SONG ; Hee Won MOON ; Hae Kyung LEE ; Kyoung Un PARK ; Sunjoo KIM ; Seok Hoon JEONG ; Jaehyeon LEE ; Joseph JEONG ; Yu Kyung KIM ; Miae LEE ; Jihyun CHO ; Jong Wan KIM ; Kyeong Seob SHIN ; Sang Hyun HWANG ; Jae Woo CHUNG ; Hye In WOO ; Chae Hoon LEE ; Namhee RYOO ; Chulhun L CHANG ; Hyun Soo KIM ; Jayoung KIM ; Jong Hee SHIN ; Soo Hyun KIM ; Mi Kyung LEE ; Seong Gyu LEE ; Sook Jin JANG ; Kyutaeg LEE ; HunSuk SUH ; Yong Hak SOHN ; Min Jung KWON ; Hee Joo LEE ; Ki Ho HONG ; Kwang Sook WOO ; Chul Min PARK ; Jeong Hwan SHIN
Annals of Laboratory Medicine 2019;39(6):537-544
BACKGROUND: Several factors contribute to differences in Streptococcus pneumoniae serotype distribution. We investigated the serotype distribution and antimicrobial resistance of S. pneumoniae isolated between 2014 and 2016 in Korea. METHODS: We collected a total of 1,855 S. pneumoniae isolates from 44 hospitals between May 2014 and May 2016, and analyzed the serotypes by sequential multiplex PCR. We investigated the distribution of each serotype by patient age, source of the clinical specimen, and antimicrobial resistance pattern. RESULTS: The most common serotypes were 11A (10.1%), followed by 19A (8.8%), 3 (8.5%), 34 (8.1%), 23A (7.3%), and 35B (6.2%). The major invasive serotypes were 3 (12.6%), 19A (7.8%), 34 (7.8%), 10A (6.8%), and 11A (6.8%). Serotypes 10A, 15B, 19A, and 12F were more common in patients ≤5 years old, while serotype 3 was more common in patients ≥65 years old compared with the other age groups. The coverage rates of pneumococcal conjugate vaccine (PCV)7, PCV10, PCV13, and pneumococcal polysaccharide vaccine 23 were 11.8%, 12.12%, 33.3%, and 53.6%, respectively. Of the 1,855 isolates, 857 (46.2%) were multi-drug resistant (MDR), with serotypes 11A and 19A predominant among the MDR strains. The resistance rates against penicillin, cefotaxime, and levofloxacin were 22.8%, 12.5%, and 9.4%, respectively. CONCLUSIONS: There were significant changes in the major S. pneumoniae serotypes in the community. Non-PCV13 serotypes increased in patients ≤5 years old following the introduction of national immunization programs with the 10- and 13-polyvalent vaccines.
Cefotaxime
;
Humans
;
Immunization Programs
;
Korea
;
Levofloxacin
;
Multiplex Polymerase Chain Reaction
;
Penicillins
;
Pneumococcal Vaccines
;
Pneumonia
;
Serogroup
;
Streptococcus pneumoniae
;
Streptococcus
;
Vaccines
10.Radiocarbon Dating of Skeletal Remains: Case Report
Jong Pil PARK ; Seung Gyu CHOI ; Sang Seob LEE ; Won Joon LEE ; Jeong Uk SEO ; Chang Un CHOI ; Yi Suk KIM ; U Young LEE ; Minsung CHOI ; Kyung Moo YANG
Korean Journal of Legal Medicine 2018;42(3):105-109
While radioactive isotope analysis has proved to be a useful method in disciplines such as archaeology and forensic anthropology, more recently, radiocarbon dating has allowed for a more nuanced biological profile of human skeletal remains. Radiocarbon dating has been made possible by the above ground nuclear bomb test conducted in 1963, which raised the level of atmospheric radiocarbon concentration to almost twice the natural level. Because the annually measured tropospheric ¹⁴C concentrations are integrated into the bomb peak curve, the time of birth and death of an individual can be estimated by comparing the radiocarbon content of a skeletal sample to the bomb-curve value. In July 2017, about 1,000 skeletal remains were excavated at the construction site of Sokcho. For medico-legal purposes, we conducted anthropological and odontological examinations of all the human remains. We then conducted the radiocarbon analysis on seven femora (head and body portions), five mandibular teeth, and soil from the site through a request to the Korea Institute of Geoscience and Mineral Resources. The results demonstrated that the estimated year of birth or death was prior to the 1950s. Due to the diverse distribution of results, we deduced that the human remains were from the local mass grave. This study supports and suggests the use of radiocarbon dating more frequently in the analysis of human skeletal remains.
Archaeology
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Bombs
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Earth Sciences
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Forensic Anthropology
;
Gangwon-do
;
Humans
;
Korea
;
Methods
;
Miners
;
Parturition
;
Radiometric Dating
;
Soil
;
Tooth

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