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.Clonazepam Usage Improves Chronic Tinnitus and Sleep Quality: A Prospective Cohort Study
Hyeon Geun KIM ; Ho Young LEE ; Euyhyun PARK ; June CHOI ; Yoon Chan RAH ; Jae Jun SONG ; Sung Won CHAE ; Hak Hyun JUNG ; Gi Jung IM
Korean Journal of Otolaryngology - Head and Neck Surgery 2022;65(12):758-764
Background and Objectives:
Tinnitus, although being a common chronic disease, can be an intractable disease that causes depression and insomnia. This study aimed to analyze the results of the Tinnitus Handicap Inventory (THI), Beck Depression Inventory (BDI), and Pittsburgh Sleep Quality Index (PSQI) questionnaire surveys before and after clonazepam therapy. In addition, we analyzed the association of three pre-treatment questionnaires and evaluated whether pre-treatment factors could predict the post-treatment THI index.Subjects and Method Patients were selected from those who visited a tertiary hospital from 2019 to 2021 for the treatment of chronic tinnitus they had for more than 3 months and who were over 20 years old. Patients were excluded from the study if they were diagnosed with acute sudden hearing loss, Meniere’s disease, brain/internal auditory canal tumors, or muscular/vascular tinnitus. The questionnaire surveys of THI, BDI, PSQI were conducted before and after 3 months of clonazepam therapy (Rivotril [Roche Inc.] 0.25 or 0.5 mg). Questionnaire scores were compared using the paired t-test. Multiple regression analysis was used to determine the relationships among the three questionnaires.
Results:
A total of 76 patients (38 males and 38 females) with the mean age of 57.2±9.01 years was analyzed. The average hearing threshold was 30.4±20.67 dB HL on the right and 31.7±17.06 dB HL on the left. The pre-treatment THI, BDI, and PSQI scores were 44.3±23.4, 7.96±2.36, and 6.85±4.68, respectively. The relationships between the THI and BDI and the THI and PSQI were significant (p=0.0027 and p<0.0001, respectively). The pre-THI score showed no significant association with age, sex, or hearing threshold (p=0.91, 0.85, and 0.23, respectively). The post-treatment THI score was 33.6±17.1, which was significantly lower than the pre-THI scores (p<0.0001). Post-BDI and post-PSQI were 7.38±2.25 and 4.04±3.20, respectively. Post-PSQI also significantly decreased compared with pre-PSQI (p=0.0002), but post-BDI did not significantly decrease (p=0.1231). In the THI survey, Question 7 (sleep disturbance) showed decrease the most, followed by Question 25 (unstable mood). The post-treatment THI could be predicted by using the formula, 0.7673+0.6947×pre-THI+0.3572×pre-PSQI.
Conclusion
The appropriate/optional use of clonazepam at low doses (0.25-0.5 mg) can significantly improve chronic tinnitus and sleep quality. Tinnitus was significantly associated with the scores of THI, BDI, PSQI and the usage of Clonazepam significantly reduced the THI and PSQI scores. However, clonazepam did not affect the BDI score.
5.Clinical Features and Long-term Prognosis of Crohn’s Disease in Korea: Results from the Prospective CONNECT Study
Seung Wook HONG ; Byong Duk YE ; Jae Hee CHEON ; Ji Hyun LEE ; Ja Seol KOO ; Byung Ik JANG ; Kang-Moon LEE ; You Sun KIM ; Tae Oh KIM ; Jong Pil IM ; Geun Am SONG ; Sung-Ae JUNG ; Hyun Soo KIM ; Dong Il PARK ; Hyun-Soo KIM ; Kyu Chan HUH ; Young-Ho KIM ; Jae Myung CHA ; Geom Seog SEO ; Chang Hwan CHOI ; Hyun Joo SONG ; Gwang Ho BAIK ; Ji Won KIM ; Sung Jae SHIN ; Young Sook PARK ; Chang Kyun LEE ; Jun LEE ; Sung Hee JUNG ; Yunho JUNG ; Sung Chul PARK ; Young-Eun JOO ; Yoon Tae JEEN ; Dong Soo HAN ; Suk-Kyun YANG ; Hyo Jong KIM ; Won Ho KIM ; Joo Sung KIM
Gut and Liver 2022;16(6):907-920
Background/Aims:
The prospective Crohn’s Disease Clinical Network and Cohort Study is a nationwide multicenter cohort study of patients with Crohn’s disease (CD) in Korea, aiming to prospectively investigate the clinical features and long-term prognosis associated with CD.
Methods:
Patients diagnosed with CD between January 2009 and September 2019 were prospectively enrolled. They were divided into two cohorts according to the year of diagnosis: cohort 1 (diagnosed between 2009 and 2011) versus cohort 2 (between 2012 and 2019).
Results:
A total of 1,175 patients were included, and the median follow-up duration was 68 months (interquartile range, 39.0 to 91.0 months). The treatment-free durations for thiopurines (p<0.001) and anti-tumor necrosis factor agents (p=0.018) of cohort 2 were shorter than those of cohort 1. Among 887 patients with B1 behavior at diagnosis, 149 patients (16.8%) progressed to either B2 or B3 behavior during follow-up. Early use of thiopurine was associated with a reduced risk of behavioral progression (adjusted hazard ratio [aHR], 0.69; 95% confidence interval [CI], 0.50 to 0.90), and family history of inflammatory bowel disease was associated with an increased risk of behavioral progression (aHR, 2.29; 95% CI, 1.16 to 4.50). One hundred forty-one patients (12.0%) underwent intestinal resection, and the intestinal resection-free survival time was significantly longer in cohort 2 than in cohort 1 (p=0.003). The early use of thiopurines (aHR, 0.35;95% CI, 0.23 to 0.51) was independently associated with a reduced risk of intestinal resection.
Conclusions
The prognosis of CD in Korea appears to have improved over time, as evidenced by the decreasing intestinal resection rate. Early use of thiopurines was associated with an improved prognosis represented by a reduced risk of intestinal resection.
6.The Study of Standardization for a Korean Dizziness Handicap Inventory for Patient Caregivers
Tae Hun KIM ; Heung Eog CHA ; Jong Geun LEE ; Gi Jung IM ; Jae Jun SONG ; Shin Hye KIM ; Il Joon MOON ; Young Ho KIM ; Jae Yong BYUN ; Sung Won CHAE
Korean Journal of Otolaryngology - Head and Neck Surgery 2019;62(8):442-447
BACKGROUND AND OBJECTIVES:
Several questionnaires had been developed to assess the handicap due to dizziness. The questionnaires for adults were used and these had been translated into Korean with validity and reliability. However, there is no Korean translation of dizziness inquiry form owing to the little concern of the pediatric dizziness. The objective of this study was to determine the reliability and validity of a Korean Dizziness Handicap Index for Patient Caregivers (KDHI-PC), and revealed the factor analysis of this index.SUBJECTS AND METHOD: We sampled the 24 pediatric patients who had dizziness-related symptoms and visited the hospitals. The patients completed a questionnaire (DHI-PC) that had been translated and reverse translated into Korean. The results of this investigation were analyzed using exploratory factor analysis, Cronbach's ñ coefficient and internal consistency reliability.
RESULTS:
By exploratory factor analysis, KDHI-PC was divided into two scales. This questionnaire showed a good internal consistency (Cronbach's ñ=0.945). All items had good item-total correlations.
CONCLUSION
The KDHI-PC is a reliable tool for evaluating the dizziness of pediatric patients.
7.The Study of Standardization for a Korean Dizziness Handicap Inventory for Patient Caregivers
Tae Hun KIM ; Heung Eog CHA ; Jong Geun LEE ; Gi Jung IM ; Jae Jun SONG ; Shin Hye KIM ; Il Joon MOON ; Young Ho KIM ; Jae Yong BYUN ; Sung Won CHAE
Korean Journal of Otolaryngology - Head and Neck Surgery 2019;62(8):442-447
BACKGROUND AND OBJECTIVES: Several questionnaires had been developed to assess the handicap due to dizziness. The questionnaires for adults were used and these had been translated into Korean with validity and reliability. However, there is no Korean translation of dizziness inquiry form owing to the little concern of the pediatric dizziness. The objective of this study was to determine the reliability and validity of a Korean Dizziness Handicap Index for Patient Caregivers (KDHI-PC), and revealed the factor analysis of this index. SUBJECTS AND METHOD: We sampled the 24 pediatric patients who had dizziness-related symptoms and visited the hospitals. The patients completed a questionnaire (DHI-PC) that had been translated and reverse translated into Korean. The results of this investigation were analyzed using exploratory factor analysis, Cronbach's α coefficient and internal consistency reliability. RESULTS: By exploratory factor analysis, KDHI-PC was divided into two scales. This questionnaire showed a good internal consistency (Cronbach's α=0.945). All items had good item-total correlations. CONCLUSION: The KDHI-PC is a reliable tool for evaluating the dizziness of pediatric patients.
Adult
;
Caregivers
;
Child
;
Dizziness
;
Humans
;
Methods
;
Reproducibility of Results
;
Weights and Measures
8.Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016.
Deog Young KIM ; Yun Hee KIM ; Jongmin LEE ; Won Hyuk CHANG ; Min Wook KIM ; Sung Bom PYUN ; Woo Kyoung YOO ; Suk Hoon OHN ; Ki Deok PARK ; Byung Mo OH ; Seong Hoon LIM ; Kang Jae JUNG ; Byung Ju RYU ; Sun IM ; Sung Ju JEE ; Han Gil SEO ; Ueon Woo RAH ; Joo Hyun PARK ; Min Kyun SOHN ; Min Ho CHUN ; Hee Suk SHIN ; Seong Jae LEE ; Yang Soo LEE ; Si Woon PARK ; Yoon Ghil PARK ; Nam Jong PAIK ; Sam Gyu LEE ; Ju Kang LEE ; Seong Eun KOH ; Don Kyu KIM ; Geun Young PARK ; Yong Il SHIN ; Myoung Hwan KO ; Yong Wook KIM ; Seung Don YOO ; Eun Joo KIM ; Min Kyun OH ; Jae Hyeok CHANG ; Se Hee JUNG ; Tae Woo KIM ; Won Seok KIM ; Dae Hyun KIM ; Tai Hwan PARK ; Kwan Sung LEE ; Byong Yong HWANG ; Young Jin SONG
Brain & Neurorehabilitation 2017;10(Suppl 1):e11-
“Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” is the 3rd edition of clinical practice guideline (CPG) for stroke rehabilitation in Korea, which updates the 2nd edition published in 2014. Forty-two specialists in stroke rehabilitation from 21 universities and 4 rehabilitation hospitals and 4 consultants participated in this update. The purpose of this CPG is to provide optimum practical guidelines for stroke rehabilitation teams to make a decision when they manage stroke patients and ultimately, to help stroke patients obtain maximal functional recovery and return to the society. The recent two CPGs from Canada (2015) and USA (2016) and articles that were published following the 2nd edition were used to develop this 3rd edition of CPG for stroke rehabilitation in Korea. The chosen articles' level of evidence and grade of recommendation were decided by the criteria of Scotland (2010) and the formal consensus was derived by the nominal group technique. The levels of evidence range from 1++ to 4 and the grades of recommendation range from A to D. Good Practice Point was recommended as best practice based on the clinical experience of the guideline developmental group. The draft of the developed CPG was reviewed by the experts group in the public hearings and then revised. “Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” consists of ‘Chapter 1; Introduction of Stroke Rehabilitation’, ‘Chapter 2; Rehabilitation for Stroke Syndrome, ‘Chapter 3; Rehabilitation for Returning to the Society’, and ‘Chapter 4; Advanced Technique for Stroke Rehabilitation’. “Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” will provide direction and standardization for acute, subacute and chronic stroke rehabilitation in Korea.
Canada
;
Consensus
;
Consultants
;
Humans
;
Korea*
;
Practice Guidelines as Topic
;
Rehabilitation*
;
Scotland
;
Specialization
;
Stroke*
9.Disease Phenotype, Activity and Clinical Course Prediction Based on C-Reactive Protein Levels at Diagnosis in Patients with Crohn's Disease: Results from the CONNECT Study.
Jee Hye KWON ; Jong Pil IM ; Byong Duk YE ; Jae Hee CHEON ; Hyun Joo JANG ; Kang Moon LEE ; You Sun KIM ; Sang Wook KIM ; Young Ho KIM ; Geun Am SONG ; Dong Soo HAN ; Won Ho KIM ; Joo Sung KIM
Gut and Liver 2016;10(4):595-603
BACKGROUND/AIMS: C-reactive protein (CRP) is an easily measured index of disease activity, but its ability to predict clinical course is controversial. We therefore designed a study to determine whether the CRP level at Crohn's disease (CD) diagnosis is a valuable indicator of the disease phenotype, activity, and clinical course. METHODS: We retrospectively analyzed 705 CD patients from 32 institutions. The patients were classified into two groups according to CRP level. The patients' demographic and clinical characteristics and their use of immunosuppressive or biological agents were recorded. Disease location and behavior, hospitalization, and surgery were analyzed. RESULTS: A high CRP was associated with younger age, steroid use, colonic or ileocolonic location, high CD activity index, and active inflammation at colonoscopy (p<0.001). As the disease progressed, patients with high CRP were more likely to exhibit strictures (p=0.027). There were significant differences in the use of 5-aminosalicylic acid, antibiotics, corticosteroids, azathioprine, and infliximab (p<0.001, p<0.001, p<0.001, p<0.001, and p=0.023, respectively). Hospitalization was also more frequent in patients with high CRP. CONCLUSIONS: The CRP level at diagnosis is useful for evaluating the phenotype, activity, and clinical course of CD. Closer follow-up strategies, with early aggressive treatment, could be considered for patients with high CRP.
Adrenal Cortex Hormones
;
Anti-Bacterial Agents
;
Azathioprine
;
Biological Factors
;
C-Reactive Protein*
;
Colon
;
Colonoscopy
;
Constriction, Pathologic
;
Crohn Disease*
;
Diagnosis*
;
Follow-Up Studies
;
Hospitalization
;
Humans
;
Inflammation
;
Infliximab
;
Mesalamine
;
Phenotype*
;
Retrospective Studies
10.Antibodies to the Antiganglioside GD1b in a Guillain-Barre Syndrome Patient with Bilateral Cerebellar Lesions.
Sang Gon LEE ; Jung Geun OH ; Hyung Kyun IM ; Hojin CHOI ; Seong Ho KOH ; Kyu Yong LEE ; Young Joo LEE
Journal of the Korean Neurological Association 2014;32(4):345-347
No abstract available.
Antibodies*
;
Cerebellar Ataxia
;
Guillain-Barre Syndrome*
;
Humans

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